Variant report

Variant	esv3402270
Chromosome Location	chr11:67887201-67889749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:686)
CpG islands
(count:856)
Chromatin interactive
region (count:42)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67889032-67889923	HepG2	liver:	n/a	n/a
2	ATF1	chr11:67888793-67889075	K562	blood:	n/a	n/a
3	ATF2	chr11:67888951-67889278	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:67889346-67889451	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr11:67887800-67888036	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:67887907-67888161	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
7	BCL11A	chr11:67887796-67888143	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
8	BCL3	chr11:67888887-67889467	A549	lung:	n/a	chr11:67888988-67888997 chr11:67889008-67889021 chr11:67888948-67888957
9	BCL3	chr11:67888656-67889209	GM12878	blood:	n/a	chr11:67888988-67888997 chr11:67888758-67888767 chr11:67888738-67888751 chr11:67888857-67888866 chr11:67889008-67889021 chr11:67888948-67888957
10	BCLAF1	chr11:67887609-67888152	GM12878	blood:	n/a	chr11:67888082-67888095 chr11:67888080-67888093
11	BHLHE40	chr11:67888808-67888904	A549	lung:	n/a	n/a
12	BHLHE40	chr11:67887840-67888037	K562	blood:	n/a	n/a
13	BHLHE40	chr11:67888653-67889927	HepG2	liver:	n/a	chr11:67888668-67888684 chr11:67888665-67888681
14	BHLHE40	chr11:67888282-67888360	K562	blood:	n/a	n/a
15	BHLHE40	chr11:67888273-67888408	HepG2	liver:	n/a	n/a
16	BHLHE40	chr11:67888613-67889855	GM12878	blood:	n/a	chr11:67888668-67888684 chr11:67888665-67888681
17	BHLHE40	chr11:67887836-67888175	GM12878	blood:	n/a	n/a
18	BHLHE40	chr11:67888687-67889827	K562	blood:	n/a	n/a
19	BRCA1	chr11:67889113-67889345	HepG2	liver:	n/a	n/a
20	BRCA1	chr11:67888826-67889918	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr11:67889601-67889832	HepG2	liver:	n/a	n/a
22	CBX3	chr11:67888686-67889836	K562	blood:	n/a	n/a
23	CCNT2	chr11:67888291-67889658	K562	blood:	n/a	chr11:67889041-67889050
24	CEBPB	chr11:67889162-67889946	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:67889266-67889395	HepG2	liver:	n/a	n/a
26	CEBPB	chr11:67889004-67889502	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr11:67889143-67889554	HepG2	liver:	n/a	n/a
28	CEBPB	chr11:67888784-67890012	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr11:67889206-67889497	K562	blood:	n/a	n/a
30	CEBPB	chr11:67889105-67889532	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr11:67889082-67889540	MCF-7	breast:	n/a	n/a
32	CEBPB	chr11:67889076-67889638	A549	lung:	n/a	n/a
33	CEBPB	chr11:67888782-67889897	HepG2	liver:	n/a	n/a
34	CEBPD	chr11:67888915-67889166	HepG2	liver:	n/a	n/a
35	CEBPD	chr11:67888678-67889876	HepG2	liver:	n/a	n/a
36	CHD1	chr11:67887675-67888152	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr11:67887748-67888759	GM12878	blood:	n/a	n/a
38	CHD1	chr11:67889482-67889528	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr11:67889089-67889353	GM12878	blood:	n/a	n/a
40	CHD2	chr11:67888737-67889950	Hela-S3	cervix:	n/a	chr11:67889042-67889052
41	CHD2	chr11:67888067-67888351	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr11:67889574-67889848	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:67889520-67889715	K562	blood:	n/a	n/a
44	CHD2	chr11:67888851-67889936	HepG2	liver:	n/a	chr11:67889042-67889052
45	CHD2	chr11:67888805-67889088	K562	blood:	n/a	chr11:67889042-67889052
46	CHD2	chr11:67888744-67889848	GM12878	blood:	n/a	chr11:67889042-67889052
47	CHD2	chr11:67887837-67888126	GM12878	blood:	n/a	n/a
48	CHD2	chr11:67888801-67889294	H1-hESC	embryonic stem cell:	n/a	chr11:67889042-67889052
49	CREB1	chr11:67888617-67889298	K562	blood:	n/a	n/a
50	CREB1	chr11:67888605-67889513	GM12878	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67888949-67888999	Hela-S3	cervix:	n/a
2	chr11:67888285-67888335	RPTEC	kidney:	n/a
3	chr11:67888949-67888999	Hela-S3	cervix:	n/a
4	chr11:67888285-67888335	RPTEC	kidney:	n/a
5	chr11:67888949-67888999	SK-N-SH_RA	brain:	n/a
6	chr11:67888858-67888908	AG09309	skin:	n/a
7	chr11:67888858-67888908	NHBE	bronchial:	n/a
8	chr11:67888949-67888999	HMEC	breast:	n/a
9	chr11:67888603-67888653	NHDF-neo	bronchial:	n/a
10	chr11:67889062-67889112	HMEC	breast:	n/a
11	chr11:67888955-67889005	MCF-7	breast:	n/a
12	chr11:67887978-67888028	H1-hESC	embryonic stem cell:	embryo
13	chr11:67888847-67888897	HIPEpiC	eye:	n/a
14	chr11:67888269-67888319	LNCaP	prostate:	n/a
15	chr11:67888847-67888897	CMK	blood:	n/a
16	chr11:67888847-67888897	Caco-2	colon:	n/a
17	chr11:67888847-67888897	SKMC	muscle:	n/a
18	chr11:67887978-67888028	HUVEC	blood vessel:	n/a
19	chr11:67889237-67889287	RPTEC	kidney:	n/a
20	chr11:67888269-67888319	Caco-2	colon:	n/a
21	chr11:67888269-67888319	AG09309	skin:	n/a
22	chr11:67888961-67889011	GM12878	blood:	n/a
23	chr11:67888952-67889002	BJ	skin:	n/a
24	chr11:67889062-67889112	PrEC	prostate:	n/a
25	chr11:67888949-67888999	NB4	blood:	n/a
26	chr11:67888603-67888653	HCT-116	colon:	n/a
27	chr11:67888955-67889005	CMK	blood:	n/a
28	chr11:67887978-67888028	SK-N-SH_RA	brain:	n/a
29	chr11:67888269-67888319	NHDF-neo	bronchial:	n/a
30	chr11:67888847-67888897	HRE	kidney:	n/a
31	chr11:67888269-67888319	GM12891	blood:	n/a
32	chr11:67888603-67888653	HAEpiC	amniotic membrane:	n/a
33	chr11:67888858-67888908	RPTEC	kidney:	n/a
34	chr11:67888949-67888999	NHDF-neo	bronchial:	n/a
35	chr11:67888269-67888319	SK-N-SH	brain:	n/a
36	chr11:67888603-67888653	ProgFib	skin:	n/a
37	chr11:67888285-67888335	BE2_C	brain:	n/a
38	chr11:67889237-67889287	HEEpiC	esophagus:	n/a
39	chr11:67888949-67888999	CMK	blood:	n/a
40	chr11:67887978-67888028	HCPEpiC	choroid plexus:	n/a
41	chr11:67889607-67889657	HepG2	liver:	n/a
42	chr11:67888949-67888999	PrEC	prostate:	n/a
43	chr11:67888952-67889002	GM19239	blood:	n/a
44	chr11:67889607-67889657	HRPEpiC	eye:	n/a
45	chr11:67889607-67889657	HNPCEpiC	eye:	n/a
46	chr11:67889062-67889112	SKMC	muscle:	n/a
47	chr11:67888949-67888999	H1-hESC	embryonic stem cell:	embryo
48	chr11:67889051-67889101	CMK	blood:	n/a
49	chr11:67888847-67888897	ProgFib	skin:	n/a
50	chr11:67888603-67888653	AoSMC	blood vessel:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67856873..67858928-chr11:67888332..67890315,2	K562	blood:
2	chr11:67764595..67767102-chr11:67888272..67890683,2	K562	blood:
3	chr11:67888938..67889526-chr14:91884442..91885010,2	Hela-S3	cervix:
4	chr10:74033294..74033891-chr11:67888402..67888975,2	NB4	blood:
5	chr11:67876263..67879090-chr11:67886261..67888114,2	K562	blood:
6	chr11:67888837..67889515-chr12:112450238..112451071,2	Hela-S3	cervix:
7	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
8	chr11:67887644..67890253-chr11:67979136..67982167,3	K562	blood:
9	chr11:67887936..67890486-chr11:67979082..67980750,2	MCF-7	breast:
10	chr11:67887256..67890230-chr11:67980200..67982109,4	MCF-7	breast:
11	chr11:67888366..67890483-chr11:68038112..68039690,2	K562	blood:
12	chr1:234744728..234746900-chr11:67886819..67889133,2	MCF-7	breast:
13	chr1:151964397..151965397-chr11:67888029..67888810,2	Hela-S3	cervix:
14	chr11:67776209..67777895-chr11:67887404..67889163,2	K562	blood:
15	chr11:67888893..67889536-chr5:149534758..149535758,2	Hela-S3	cervix:
16	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
17	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
18	chr11:67888702..67889469-chr12:46661053..46661870,2	Hela-S3	cervix:
19	chr10:99496905..99497501-chr11:67888548..67889429,2	Hela-S3	cervix:
20	chr11:67887483..67890032-chr11:67980873..67983925,4	MCF-7	breast:
21	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
22	chr11:67889304..67890106-chr3:145878724..145879660,2	Hela-S3	cervix:
23	chr11:67888934..67889819-chr19:46010404..46011013,2	Hela-S3	cervix:
24	chr11:67879272..67883726-chr11:67883883..67887587,4	MCF-7	breast:
25	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
26	chr11:67809131..67812171-chr11:67888117..67890461,4	MCF-7	breast:
27	chr11:67888400..67889306-chr15:72523095..72524055,2	Hela-S3	cervix:
28	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
29	chr11:8710001..8710863-chr11:67889168..67889751,2	Hela-S3	cervix:
30	chr11:67796548..67799452-chr11:67888689..67890440,2	K562	blood:
31	chr11:67796203..67799766-chr11:67888971..67890534,5	MCF-7	breast:
32	chr11:67797558..67799338-chr11:67885991..67888361,2	K562	blood:
33	chr11:67848312..67851190-chr11:67885750..67887759,2	MCF-7	breast:
34	chr11:67888805..67889413-chr17:34957650..34958285,2	Hela-S3	cervix:
35	chr11:67888461..67889265-chr19:9694680..9695551,2	NB4	blood:
36	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
37	chr11:67886377..67890473-chr11:67979925..67982167,7	K562	blood:
38	chr11:67889083..67889616-chr14:68161938..68162480,2	Hela-S3	cervix:
39	chr11:67888951..67889473-chr6:43969361..43969867,2	Hela-S3	cervix:
40	chr11:67805532..67808187-chr11:67887312..67890096,4	MCF-7	breast:
41	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
42	chr1:235291681..235292404-chr11:67888686..67889195,2	Hela-S3	cervix:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCIRG1-2	chr11:67889389-67889670	XLOC_009183
2	lnc-TCIRG1-2	chr11:67889520-67889670	ENSG00000255236.1
3	lnc-TCIRG1-2	chr11:67889047-67889670	XLOC_009183
4	lnc-TCIRG1-2	chr11:67889103-67889670	NONHSAT022507
5	lnc-TCIRG1-2	chr11:67889520-67889670	ENSG00000255236.2

No data

Variant related genes	Relation type
ENSG00000255236	TF binding region
CHKA	TF binding region
ENSG00000255236	CpG island
CHKA	CpG island
ENSG00000197747	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000168264	chromatin interactions
ENSG00000129282	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000173726	chromatin interactions
ENSG00000197603	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000110057	chromatin interactions
ENSG00000110717	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000113721	chromatin interactions
ENSG00000125753	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000258798	chromatin interactions
ENSG00000197961	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000155256	chromatin interactions
ENSG00000255306	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000072042	chromatin interactions
EHF	miRNA target sites
PIP4K2A	miRNA target sites

Extended variants
information (count: 88 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150109432	chr11:67887227-67887228	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs565730451	chr11:67887233-67887234	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs61890478	chr11:67887258-67887259	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112505373	chr11:67887282-67887283	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs557533217	chr11:67887288-67887289	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs569774686	chr11:67887289-67887290	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs537169634	chr11:67887300-67887301	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs577779743	chr11:67887302-67887303	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs555319261	chr11:67887303-67887304	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs370192213	chr11:67887323-67887324	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs191225102	chr11:67887325-67887326	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs553672274	chr11:67887378-67887379	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs578187793	chr11:67887404-67887405	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs545576615	chr11:67887414-67887415	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs563886296	chr11:67887425-67887426	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs184807035	chr11:67887459-67887460	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs543572588	chr11:67887461-67887462	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs561514791	chr11:67887466-67887467	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs560374131	chr11:67887469-67887470	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs373920255	chr11:67887502-67887503	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs565920077	chr11:67887513-67887514	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs533067699	chr11:67887546-67887547	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs138906048	chr11:67887550-67887551	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs569541351	chr11:67887621-67887622	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs537131008	chr11:67887639-67887640	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs148814034	chr11:67887697-67887698	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs578079577	chr11:67887722-67887723	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs189419596	chr11:67887738-67887739	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs79792945	chr11:67887746-67887747	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs193222227	chr11:67887762-67887763	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs553099252	chr11:67887766-67887767	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs578169231	chr11:67887786-67887787	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs185221601	chr11:67887793-67887794	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs190216551	chr11:67887801-67887802	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs141745202	chr11:67887840-67887841	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs181426211	chr11:67887926-67887927	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs138514575	chr11:67888009-67888010	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs542554487	chr11:67888101-67888102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs528983573	chr11:67888123-67888124	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs540982190	chr11:67888198-67888199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs559102150	chr11:67888215-67888216	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs533034767	chr11:67888235-67888236	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs371147054	chr11:67888252-67888253	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs560866089	chr11:67888271-67888272	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs551295541	chr11:67888272-67888273	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs375078573	chr11:67888273-67888274	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs569504520	chr11:67888299-67888300	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs549563780	chr11:67888304-67888305	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs530664707	chr11:67888358-67888359	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs548906257	chr11:67888412-67888413	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:67868400-67887400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:67875400-67888200	Weak transcription	Spleen	Spleen
4	chr11:67878800-67887800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:67881800-67887600	Weak transcription	HMEC	breast
6	chr11:67882400-67887400	Weak transcription	Small Intestine	intestine
7	chr11:67883000-67887800	Weak transcription	Aorta	Aorta
8	chr11:67883600-67887400	Enhancers	Ovary	ovary
9	chr11:67884000-67887400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr11:67884200-67887800	Weak transcription	Esophagus	oesophagus
11	chr11:67884400-67888000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:67884600-67887600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:67885400-67887400	Enhancers	Fetal Muscle Leg	muscle
14	chr11:67885400-67887400	Enhancers	A549	lung
15	chr11:67885400-67887600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:67885400-67887800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:67885600-67887600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:67885600-67887800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:67885800-67887400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:67885800-67889200	Active TSS	Fetal Intestine Large	intestine
21	chr11:67886000-67887400	Weak transcription	Placenta	Placenta
22	chr11:67886000-67887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67886000-67887600	Weak transcription	Lung	lung
24	chr11:67886000-67887800	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:67886000-67888000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:67886000-67888200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:67886000-67889600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:67886200-67887600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:67886200-67887800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:67886200-67888000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:67886200-67888000	Flanking Active TSS	Liver	Liver
32	chr11:67886200-67888000	Flanking Active TSS	Hela-S3	cervix
33	chr11:67886200-67888200	Flanking Active TSS	Dnd41	blood
34	chr11:67886400-67887400	Weak transcription	Left Ventricle	heart
35	chr11:67886400-67888200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:67886600-67887400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:67886600-67887400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:67886600-67887400	Enhancers	Psoas Muscle	Psoas
39	chr11:67886600-67887400	Weak transcription	Right Ventricle	heart
40	chr11:67886600-67887400	Enhancers	HUVEC	blood vessel
41	chr11:67886600-67888000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr11:67886600-67889000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:67886600-67889200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:67886600-67889200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:67886600-67889200	Active TSS	GM12878-XiMat	blood
46	chr11:67886600-67889400	Active TSS	Brain Germinal Matrix	brain
47	chr11:67886600-67889600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:67886600-67890000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:67886800-67887400	Weak transcription	Fetal Kidney	kidney
50	chr11:67886800-67887400	Enhancers	Right Atrium	heart

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