Variant report

Variant	esv3322804
Chromosome Location	chr11:74951829-74954677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:427)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74952749-74952918	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:74952687-74952993	K562	blood:	n/a	n/a
3	ATF3	chr11:74952515-74953036	K562	blood:	n/a	n/a
4	BACH1	chr11:74952116-74952443	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:74952712-74952993	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr11:74952601-74953085	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:74952360-74953143	K562	blood:	n/a	n/a
8	BHLHE40	chr11:74952704-74953043	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:74953507-74953603	K562	blood:	n/a	n/a
10	BRCA1	chr11:74952733-74952941	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr11:74952719-74952944	HepG2	liver:	n/a	n/a
12	CBX3	chr11:74952666-74952959	K562	blood:	n/a	n/a
13	CBX3	chr11:74952649-74953049	K562	blood:	n/a	n/a
14	CCNT2	chr11:74951808-74953252	K562	blood:	n/a	chr11:74951881-74951890
15	CEBPB	chr11:74952788-74952979	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:74952657-74953004	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr11:74952796-74952979	HepG2	liver:	n/a	n/a
18	CHD1	chr11:74952511-74953352	IMR90	lung:	n/a	n/a
19	CHD1	chr11:74952841-74952970	GM12878	blood:	n/a	n/a
20	CHD2	chr11:74952652-74952961	GM12878	blood:	n/a	n/a
21	CHD2	chr11:74952628-74953081	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr11:74952824-74952958	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:74952665-74952899	K562	blood:	n/a	n/a
24	CHD2	chr11:74952734-74952972	HepG2	liver:	n/a	n/a
25	CREB1	chr11:74952025-74953166	HepG2	liver:	n/a	n/a
26	CREB1	chr11:74952089-74952501	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr11:74952592-74953102	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr11:74952301-74953102	A549	lung:	n/a	n/a
29	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:74952668-74953049	K562	blood:	n/a	n/a
31	CTCF	chr11:74952760-74952910	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr11:74952720-74952870	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr11:74952683-74953029	ProgFib	skin:	n/a	n/a
34	CTCF	chr11:74952688-74953024	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr11:74952780-74952930	AG09319	gingival:	n/a	n/a
36	CTCF	chr11:74952780-74952930	HMF	breast:	n/a	n/a
37	CTCF	chr11:74952760-74952910	NB4	blood:	n/a	n/a
38	CTCF	chr11:74952760-74952910	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr11:74952563-74953073	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:74952689-74953005	Medullo	brain:	n/a	n/a
41	CTCF	chr11:74952448-74952461	GM19239	blood:	n/a	n/a
42	CTCF	chr11:74952670-74953054	GM10248	blood:	n/a	n/a
43	CTCF	chr11:74952780-74952930	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr11:74952691-74953023	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:74952574-74953161	A549	lung:	n/a	n/a
46	CTCF	chr11:74952720-74952870	HCM	heart:	n/a	n/a
47	CTCF	chr11:74953020-74953170	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr11:74953050-74953059	GM19240	blood:	n/a	n/a
49	CTCF	chr11:74952588-74953119	T-47D	breast:	n/a	n/a
50	CTCF	chr11:74952760-74952910	HRE	kidney:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74952787-74952837	HUVEC	blood vessel:	n/a
2	chr11:74952165-74952215	NHDF-neo	bronchial:	n/a
3	chr11:74951923-74951973	AG09319	gingival:	n/a
4	chr11:74954620-74954670	HUVEC	blood vessel:	n/a
5	chr11:74952787-74952837	GM12891	blood:	n/a
6	chr11:74951923-74951973	Caco-2	colon:	n/a
7	chr11:74952790-74952840	GM12891	blood:	n/a
8	chr11:74953082-74953132	SK-N-SH_RA	brain:	n/a
9	chr11:74951923-74951973	HL-60	blood:	n/a
10	chr11:74952787-74952837	MCF-7	breast:	n/a
11	chr11:74952790-74952840	T-47D	breast:	n/a
12	chr11:74952787-74952837	AoSMC	blood vessel:	n/a
13	chr11:74952790-74952840	HAEpiC	amniotic membrane:	n/a
14	chr11:74952165-74952215	SK-N-SH_RA	brain:	n/a
15	chr11:74954620-74954670	BJ	skin:	n/a
16	chr11:74953082-74953132	BE2_C	brain:	n/a
17	chr11:74952790-74952840	ProgFib	skin:	n/a
18	chr11:74953490-74953540	HRE	kidney:	n/a
19	chr11:74954620-74954670	HRPEpiC	eye:	n/a
20	chr11:74951923-74951973	Hela-S3	cervix:	n/a
21	chr11:74953082-74953132	GM12878	blood:	n/a
22	chr11:74953490-74953540	SAEC	small airway:	n/a
23	chr11:74954620-74954670	HIPEpiC	eye:	n/a
24	chr11:74954620-74954670	MCF10A-Er-Src	breast:	n/a
25	chr11:74952790-74952840	AG04449	skin:	fetal
26	chr11:74952165-74952215	IMR90	lung:	fetal
27	chr11:74952165-74952215	BE2_C	brain:	n/a
28	chr11:74953490-74953540	HIPEpiC	eye:	n/a
29	chr11:74952790-74952840	NH-A	brain:	n/a
30	chr11:74952165-74952215	NB4	blood:	n/a
31	chr11:74953490-74953540	H1-hESC	embryonic stem cell:	embryo
32	chr11:74953082-74953132	AG04449	skin:	fetal
33	chr11:74952787-74952837	BE2_C	brain:	n/a
34	chr11:74952787-74952837	NB4	blood:	n/a
35	chr11:74952165-74952215	HEEpiC	esophagus:	n/a
36	chr11:74952790-74952840	HCM	heart:	n/a
37	chr11:74951923-74951973	GM12892	blood:	n/a
38	chr11:74952787-74952837	NT2-D1	testis:	n/a
39	chr11:74952790-74952840	HRE	kidney:	n/a
40	chr11:74953082-74953132	T-47D	breast:	n/a
41	chr11:74953490-74953540	AG04450	lung:	fetal
42	chr11:74951923-74951973	HMEC	breast:	n/a
43	chr11:74951923-74951973	HCM	heart:	n/a
44	chr11:74951923-74951973	AG04450	lung:	fetal
45	chr11:74953082-74953132	GM12891	blood:	n/a
46	chr11:74954620-74954670	HAEpiC	amniotic membrane:	n/a
47	chr11:74951923-74951973	AG10803	skin:	n/a
48	chr11:74953490-74953540	MCF-7	breast:	n/a
49	chr11:74952790-74952840	AG09309	skin:	n/a
50	chr11:74951923-74951973	PFSK-1	brain:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74920713..74922645-chr11:74953043..74955609,2	MCF-7	breast:
2	chr11:74925158..74925973-chr11:74952278..74953089,3	K562	blood:
3	chr11:74855250..74856195-chr11:74952793..74953318,2	K562	blood:
4	chr11:74930581..74931130-chr11:74952289..74952870,2	K562	blood:
5	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
6	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:
7	chr11:74915518..74916204-chr11:74952277..74953016,2	MCF-7	breast:
8	chr11:74952321..74952936-chr12:76424646..76425589,2	HCT-116	colon:
9	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
10	chr11:74735572..74736278-chr11:74952296..74952887,2	K562	blood:
11	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
12	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
13	chr11:74952691..74953296-chr11:75095152..75095848,2	K562	blood:
14	chr11:74733768..74734574-chr11:74952444..74953243,2	MCF-7	breast:
15	chr11:74925000..74926013-chr11:74952324..74953354,12	MCF-7	breast:
16	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
17	chr11:74924673..74926005-chr11:74952370..74953068,4	MCF-7	breast:
18	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
19	chr11:74733402..74734825-chr11:74952350..74953292,7	K562	blood:
20	chr11:74733622..74734624-chr11:74952400..74953312,9	MCF-7	breast:
21	chr11:74742652..74743217-chr11:74952410..74953405,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRB1-1	chr11:74952051-74952218	ENSG00000255136.1
2	lnc-ARRB1-1	chr11:74952051-74952092	ENSG00000255136.2

No data

Variant related genes	Relation type
ENSG00000255136	TF binding region
TPBGL	TF binding region
ENSG00000255136	CpG island
TPBGL	CpG island
ENSG00000166435	chromatin interactions
ENSG00000118363	chromatin interactions
ENSG00000139289	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544684066	chr11:74951841-74951842	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558279221	chr11:74951920-74951921	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575741373	chr11:74951974-74951975	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146907924	chr11:74952055-74952056	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs575335603	chr11:74952088-74952089	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs561327607	chr11:74952122-74952123	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs138623574	chr11:74952139-74952140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs540961364	chr11:74952140-74952141	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs189930706	chr11:74952161-74952162	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs142698935	chr11:74952295-74952296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113616037	chr11:74952431-74952432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs552692995	chr11:74952497-74952498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs150733827	chr11:74952556-74952557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181283943	chr11:74952563-74952564	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs185014363	chr11:74952664-74952665	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs137982262	chr11:74952724-74952725	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs149491762	chr11:74952733-74952734	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546520898	chr11:74952763-74952764	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs566128932	chr11:74952775-74952776	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs538289769	chr11:74952827-74952828	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs558140099	chr11:74952852-74952853	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112398218	chr11:74952895-74952896	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs575253108	chr11:74952938-74952939	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112041035	chr11:74952945-74952946	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537559298	chr11:74953122-74953123	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs374014009	chr11:74953231-74953232	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs555128068	chr11:74953278-74953279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377100721	chr11:74953287-74953288	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574960027	chr11:74953306-74953307	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs540924407	chr11:74953322-74953323	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs35688933	chr11:74953323-74953324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560804818	chr11:74953384-74953385	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs577619550	chr11:74953407-74953408	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188310398	chr11:74953418-74953419	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112572502	chr11:74953475-74953476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562759610	chr11:74953560-74953561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531800523	chr11:74953565-74953566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs139928651	chr11:74953566-74953567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs59905687	chr11:74953574-74953575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529887061	chr11:74953606-74953607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528528593	chr11:74953617-74953618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367665700	chr11:74953816-74953817	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139553680	chr11:74953818-74953819	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538549662	chr11:74953869-74953870	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552123153	chr11:74953876-74953877	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568794134	chr11:74953931-74953932	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181867886	chr11:74953952-74953953	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs72998594	chr11:74953956-74953957	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574966320	chr11:74953983-74953984	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34103907	chr11:74954065-74954066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74952200	Enhancers	Spleen	Spleen
2	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
3	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
4	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:74951200-74952000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:74951200-74952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:74951400-74952000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr11:74951400-74952000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:74951400-74952000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr11:74951400-74952000	Bivalent Enhancer	Fetal Brain Male	brain
15	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
16	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:74951400-74952200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr11:74951400-74952200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
21	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:74951400-74952400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr11:74951400-74952600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:74951400-74953000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
30	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:74951400-74953400	Active TSS	Right Atrium	heart
34	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:74951400-74953600	Enhancers	Liver	Liver
40	chr11:74951600-74952000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:74951600-74952000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:74951600-74952000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:74951600-74952000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr11:74951600-74952000	Bivalent Enhancer	Placenta	Placenta
47	chr11:74951600-74952000	Active TSS	Pancreas	Pancrea
48	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
49	chr11:74951600-74952000	Bivalent Enhancer	NH-A	brain
50	chr11:74951600-74952200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links