Variant report

Variant	esv3334171
Chromosome Location	chr11:67142026-67144324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:305)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67141871-67142060	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:67141724-67142126	K562	blood:	n/a	n/a
3	ATF3	chr11:67141687-67142060	K562	blood:	n/a	n/a
4	ATF3	chr11:67140879-67142447	A549	lung:	n/a	chr11:67141369-67141378 chr11:67140957-67140966
5	ATF3	chr11:67141330-67142359	A549	lung:	n/a	chr11:67141369-67141378
6	BACH1	chr11:67141587-67142174	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:67143081-67143485	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:67141425-67142399	K562	blood:	n/a	n/a
9	BCL3	chr11:67140853-67142816	A549	lung:	n/a	chr11:67140958-67140967 chr11:67141685-67141698
10	BCL3	chr11:67142887-67143940	A549	lung:	n/a	n/a
11	BCL3	chr11:67142738-67143900	A549	lung:	n/a	n/a
12	BCL3	chr11:67141100-67142684	A549	lung:	n/a	chr11:67141685-67141698
13	BHLHE40	chr11:67141627-67142117	K562	blood:	n/a	n/a
14	BHLHE40	chr11:67141560-67142442	A549	lung:	n/a	n/a
15	BRCA1	chr11:67142412-67142652	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr11:67141754-67142140	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr11:67141555-67142189	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr11:67141193-67142138	K562	blood:	n/a	n/a
19	CCNT2	chr11:67140118-67142068	K562	blood:	n/a	chr11:67141751-67141760 chr11:67141011-67141020 chr11:67141369-67141378 chr11:67140964-67140973 chr11:67141363-67141372
20	CEBPB	chr11:67141704-67142177	K562	blood:	n/a	n/a
21	CEBPB	chr11:67141087-67142244	A549	lung:	n/a	n/a
22	CEBPB	chr11:67140890-67142772	A549	lung:	n/a	n/a
23	CEBPB	chr11:67141516-67142198	IMR90	lung:	n/a	n/a
24	CEBPB	chr11:67141814-67142157	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:67141180-67142236	MCF-7	breast:	n/a	n/a
26	CEBPB	chr11:67141560-67142241	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr11:67141886-67142047	HepG2	liver:	n/a	n/a
28	CEBPB	chr11:67141479-67142252	A549	lung:	n/a	n/a
29	CEBPB	chr11:67141302-67142374	HCT-116	colon:	n/a	n/a
30	CEBPB	chr11:67141780-67142147	HepG2	liver:	n/a	n/a
31	CEBPB	chr11:67141510-67142268	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr11:67142992-67143015	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:67141789-67142176	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr11:67141786-67142209	K562	blood:	n/a	n/a
35	CHD1	chr11:67140091-67142532	IMR90	lung:	n/a	chr11:67140198-67140208 chr11:67141370-67141380 chr11:67141258-67141268
36	CHD2	chr11:67140982-67142665	Hela-S3	cervix:	n/a	chr11:67141370-67141380 chr11:67141258-67141268
37	CHD2	chr11:67142943-67143154	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr11:67142262-67142317	K562	blood:	n/a	n/a
39	CHD2	chr11:67143210-67143464	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr11:67140861-67142257	A549	lung:	n/a	n/a
41	CREB1	chr11:67142930-67143292	A549	lung:	n/a	n/a
42	CREB1	chr11:67142347-67142725	A549	lung:	n/a	n/a
43	CTBP2	chr11:67141454-67142097	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:67141471-67142113	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:67141880-67142030	HCT-116	colon:	n/a	n/a
46	CTCF	chr11:67141980-67142130	GM12868	blood:	n/a	n/a
47	CTCF	chr11:67142100-67142250	HepG2	liver:	n/a	n/a
48	CTCF	chr11:67141485-67142047	K562	blood:	n/a	n/a
49	CTCF	chr11:67141031-67142656	A549	lung:	n/a	chr11:67141466-67141479 chr11:67141354-67141367
50	CTCF	chr11:67142940-67143090	Caco-2	colon:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67142030-67142080	HCF	heart:	n/a
2	chr11:67143062-67143112	ovcar-3	ovarian:	n/a
3	chr11:67142562-67142612	HNPCEpiC	eye:	n/a
4	chr11:67143062-67143112	HCF	heart:	n/a
5	chr11:67143062-67143112	AG09309	skin:	n/a
6	chr11:67142268-67142318	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:67142030-67142080	HRPEpiC	eye:	n/a
8	chr11:67143062-67143112	Hepatocyte	liver:	n/a
9	chr11:67142268-67142318	HRPEpiC	eye:	n/a
10	chr11:67142268-67142318	H1-hESC	embryonic stem cell:	embryo
11	chr11:67142562-67142612	GM12892	blood:	n/a
12	chr11:67143062-67143112	SAEC	small airway:	n/a
13	chr11:67143062-67143112	AG09319	gingival:	n/a
14	chr11:67142562-67142612	HEEpiC	esophagus:	n/a
15	chr11:67142001-67142051	AG04449	skin:	fetal
16	chr11:67142562-67142612	SAEC	small airway:	n/a
17	chr11:67142001-67142051	HAEpiC	amniotic membrane:	n/a
18	chr11:67142030-67142080	GM12891	blood:	n/a
19	chr11:67142562-67142612	SK-N-SH_RA	brain:	n/a
20	chr11:67142268-67142318	HepG2	liver:	n/a
21	chr11:67142562-67142612	SK-N-MC	brain:	n/a
22	chr11:67142562-67142612	HepG2	liver:	n/a
23	chr11:67142268-67142318	Caco-2	colon:	n/a
24	chr11:67143062-67143112	MCF-7	breast:	n/a
25	chr11:67142030-67142080	HCT-116	colon:	n/a
26	chr11:67142562-67142612	HUVEC	blood vessel:	n/a
27	chr11:67142268-67142318	NH-A	brain:	n/a
28	chr11:67142562-67142612	HL-60	blood:	n/a
29	chr11:67142268-67142318	CMK	blood:	n/a
30	chr11:67143062-67143112	BE2_C	brain:	n/a
31	chr11:67142268-67142318	HRE	kidney:	n/a
32	chr11:67142268-67142318	HAEpiC	amniotic membrane:	n/a
33	chr11:67143062-67143112	H1-hESC	embryonic stem cell:	embryo
34	chr11:67143062-67143112	Jurkat	blood:	n/a
35	chr11:67142030-67142080	AG09309	skin:	n/a
36	chr11:67143062-67143112	U87	brain:	n/a
37	chr11:67143062-67143112	GM12891	blood:	n/a
38	chr11:67142268-67142318	U87	brain:	n/a
39	chr11:67142562-67142612	K562	blood:	n/a
40	chr11:67142001-67142051	U87	brain:	n/a
41	chr11:67142030-67142080	SAEC	small airway:	n/a
42	chr11:67142001-67142051	AG09319	gingival:	n/a
43	chr11:67142562-67142612	RPTEC	kidney:	n/a
44	chr11:67142268-67142318	PFSK-1	brain:	n/a
45	chr11:67142562-67142612	NB4	blood:	n/a
46	chr11:67143062-67143112	AG04450	lung:	fetal
47	chr11:67142030-67142080	ovcar-3	ovarian:	n/a
48	chr11:67142562-67142612	HCM	heart:	n/a
49	chr11:67142001-67142051	MCF10A-Er-Src	breast:	n/a
50	chr11:67142001-67142051	HPAEpiC	pulmonary alveolar:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:
2	chr11:67124080..67124985-chr11:67141333..67142050,4	K562	blood:
3	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
4	chr11:67140268..67142517-chr20:55839534..55841832,2	MCF-7	breast:
5	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
6	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:
7	chr1:110752769..110754407-chr11:67141303..67143426,2	MCF-7	breast:
8	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
9	chr11:67140485..67142430-chr11:67273527..67275502,2	K562	blood:
10	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
11	chr11:67055479..67057173-chr11:67142777..67145596,2	K562	blood:
12	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
13	chr11:67140319..67142184-chr11:67395845..67397635,2	MCF-7	breast:
14	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
15	chr11:67141590..67142463-chr11:111749577..111750345,2	Hela-S3	cervix:
16	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
17	chr11:67031883..67034489-chr11:67142861..67144652,2	K562	blood:
18	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
19	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
20	chr11:66823034..66824892-chr11:67139520..67142366,3	MCF-7	breast:
21	chr11:67124136..67124774-chr11:67141523..67142327,3	MCF-7	breast:
22	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
23	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
24	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
25	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
26	chr11:67070489..67072642-chr11:67143718..67146794,4	MCF-7	breast:
27	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
28	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
29	chr11:67140249..67142626-chr11:67380875..67383552,2	MCF-7	breast:
30	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:
31	chr11:67143181..67146172-chr11:67164311..67167140,2	K562	blood:
32	chr11:67141166..67142111-chr16:30709540..30710323,2	Hela-S3	cervix:
33	chr11:67069872..67072644-chr11:67140515..67142125,2	K562	blood:
34	chr11:67139765..67142051-chr17:57918264..57920706,2	MCF-7	breast:
35	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
36	chr11:67139501..67142119-chr16:3071898..3074181,2	MCF-7	breast:
37	chr11:67142650..67146172-chr11:67164311..67167140,3	K562	blood:
38	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
39	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
40	chr11:67141563..67142093-chr2:37193174..37193824,2	Hela-S3	cervix:
41	chr11:67140165..67142541-chr11:67273740..67276217,2	MCF-7	breast:
42	chr11:67120355..67120891-chr11:67141344..67142247,2	MCF-7	breast:
43	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000256514	CpG island
CLCF1	CpG island
ENSG00000172613	chromatin interactions
ENSG00000103145	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000258529	chromatin interactions
ENSG00000115808	chromatin interactions
ENSG00000255561	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000116396	chromatin interactions
ENSG00000131652	chromatin interactions
ENSG00000137720	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000173020	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7484118	chr11:67142038-67142039	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
2	rs536112884	chr11:67142044-67142045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
3	rs368031181	chr11:67142063-67142064	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
4	rs544109555	chr11:67142151-67142152	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
5	rs372641529	chr11:67142169-67142170	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
6	rs530154582	chr11:67142259-67142260	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs557699791	chr11:67142268-67142269	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs376185852	chr11:67142306-67142307	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs77851920	chr11:67142342-67142343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs527803344	chr11:67142477-67142478	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs552776664	chr11:67142486-67142487	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs564672998	chr11:67142563-67142564	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs372516712	chr11:67142664-67142665	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs76883240	chr11:67142667-67142668	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs529889792	chr11:67142735-67142736	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs550493071	chr11:67142779-67142780	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs370087821	chr11:67142814-67142815	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs149035680	chr11:67142822-67142823	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs536277484	chr11:67142837-67142838	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs547891871	chr11:67142849-67142850	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs566200060	chr11:67142896-67142897	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs373765702	chr11:67142920-67142921	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs376376593	chr11:67142924-67142925	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs533642358	chr11:67142925-67142926	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs61891588	chr11:67142935-67142936	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576667202	chr11:67143096-67143097	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs537745021	chr11:67143221-67143222	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs556448029	chr11:67143266-67143267	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs553518329	chr11:67143270-67143271	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs560529431	chr11:67143274-67143275	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs11227781	chr11:67143283-67143284	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs560307475	chr11:67143290-67143291	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs572526795	chr11:67143293-67143294	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs546331507	chr11:67143298-67143299	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs564662817	chr11:67143356-67143357	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs371952331	chr11:67143395-67143396	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs550187960	chr11:67143413-67143414	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs562370711	chr11:67143420-67143421	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs529579922	chr11:67143447-67143448	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs548119444	chr11:67143604-67143605	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs566138770	chr11:67143623-67143624	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs148226690	chr11:67143639-67143640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs141511020	chr11:67143659-67143660	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs570288466	chr11:67143687-67143688	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs538077451	chr11:67143689-67143690	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs556102615	chr11:67143732-67143733	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs574649575	chr11:67143777-67143778	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs535388573	chr11:67143778-67143779	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs147520435	chr11:67143796-67143797	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs35587613	chr11:67143860-67143861	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:67139600-67142400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:67139800-67142200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67140200-67142200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:67140600-67142600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr11:67141000-67142200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:67141000-67142200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr11:67141000-67142200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:67141000-67142600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:67141200-67142200	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr11:67141200-67142200	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:67141200-67142200	Flanking Active TSS	Stomach Mucosa	stomach
13	chr11:67141200-67142200	Enhancers	Spleen	Spleen
14	chr11:67141200-67142400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:67141400-67142200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:67141400-67142200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:67141400-67142200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:67141400-67142200	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr11:67141400-67142200	Flanking Active TSS	NHEK	skin
20	chr11:67141400-67142400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67141400-67142400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:67141400-67142400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67141400-67142400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67141400-67142400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:67141400-67142400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:67141400-67142400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr11:67141400-67142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:67141400-67142600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:67141400-67142600	Flanking Active TSS	K562	blood
30	chr11:67141400-67142600	Flanking Active TSS	NH-A	brain
31	chr11:67141400-67142800	Flanking Active TSS	Hela-S3	cervix
32	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr11:67141600-67142200	Flanking Active TSS	HSMMtube	muscle
36	chr11:67141600-67142400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr11:67141600-67142400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:67141600-67142400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:67141600-67142400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr11:67141600-67142400	Enhancers	Small Intestine	intestine
41	chr11:67141600-67142400	Flanking Active TSS	NHLF	lung
42	chr11:67141600-67142600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr11:67141600-67142600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:67141600-67142600	Bivalent Enhancer	Fetal Heart	heart
45	chr11:67141600-67142600	Flanking Active TSS	HMEC	breast
46	chr11:67141600-67143600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr11:67141800-67142200	Enhancers	Fetal Intestine Large	intestine
48	chr11:67141800-67142400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr11:67141800-67142400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:67141800-67142400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links