Variant report

Variant	rs76972551
Chromosome Location	chr11:67210015-67210016
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67198736-67211579	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67208189-67210433	GM12878	blood:	n/a	n/a
3	ZNF263	chr11:67209869-67210107	HEK293-T-REx	kidney:	n/a	n/a
4	POLR2A	chr11:67200521-67212166	K562	blood:	n/a	n/a
5	POLR2A	chr11:67209844-67210585	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:67209804-67210125	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:67209154-67210769	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:67209179-67210722	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67208132-67211600	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:67209386-67210400	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:67209680-67210135	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:67209794-67210729	GM19193	blood:	n/a	n/a
13	MXI1	chr11:67209791-67211572	IMR90	lung:	n/a	n/a
14	ELF1	chr11:67209722-67211558	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:67209121-67210199	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:67209779-67210056	ProgFib	skin:	n/a	n/a
17	POLR2A	chr11:67209140-67210425	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67209774-67210758	ECC-1	luminal epithelium:	n/a	n/a
19	HCFC1	chr11:67209216-67212169	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:67209197-67211545	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:67209242-67210784	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:67204881-67211417	Hela-S3	cervix:	n/a	n/a
23	MTA3	chr11:67209230-67210101	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:67209710-67210122	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:67209230-67211553	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67209255-67210737	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:67198622-67210790	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:67204834-67211350	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:67209912-67211470	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:67210005-67210073	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:67197957-67210886	GM12892	blood:	n/a	n/a
32	ZEB1	chr11:67209351-67210156	GM12878	blood:	n/a	chr11:67209688-67209695
33	POLR2A	chr11:67209806-67211429	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:67208154-67211428	GM19099	blood:	n/a	n/a
35	POLR2A	chr11:67209881-67210156	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:67200689-67210558	K562	blood:	n/a	n/a
37	POLR2A	chr11:67209829-67210083	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:67209998-67211644	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr11:67198642-67211413	K562	blood:	n/a	n/a
40	POLR2A	chr11:67209509-67211404	GM18951	blood:	n/a	n/a
41	POLR2A	chr11:67207704-67213927	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:67209181-67210139	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:67209240-67210183	PFSK-1	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67124441..67126848-chr11:67209187..67211107,2	K562	blood:
2	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
3	chr11:67208782..67211032-chr11:67270751..67273545,3	K562	blood:
4	chr11:67206947..67211030-chr11:67273670..67277577,4	MCF-7	breast:
5	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
6	chr11:67204954..67212426-chr11:67228820..67232211,6	K562	blood:
7	chr11:67208958..67211217-chr17:56736613..56738121,2	MCF-7	breast:
8	chr11:67207904..67210724-chr11:67272140..67274356,2	MCF-7	breast:
9	chr11:67209787..67211313-chr11:67271082..67272865,2	MCF-7	breast:
10	chr11:67209798..67211457-chr20:55841438..55843138,2	MCF-7	breast:
11	chr11:67209395..67211059-chr11:67288619..67291060,2	K562	blood:
12	chr11:67140134..67141664-chr11:67209999..67212449,2	K562	blood:
13	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:

No data

Variant related genes	Relation type
PTPRCAP	TF binding region
CORO1B	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000167791	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000270169	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
23	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
25	esv3324830	chr11:67209801-67212349	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67196800-67210200	Weak transcription	Fetal Kidney	kidney
2	chr11:67202200-67210200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:67202400-67210200	Weak transcription	Psoas Muscle	Psoas
4	chr11:67203200-67210400	Weak transcription	Ovary	ovary
5	chr11:67203800-67210400	Weak transcription	Aorta	Aorta
6	chr11:67205600-67210200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:67205600-67210400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:67205800-67211200	Enhancers	Primary B cells from cord blood	blood
9	chr11:67206200-67210200	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:67206200-67210200	Genic enhancers	Spleen	Spleen
11	chr11:67206800-67210200	Genic enhancers	Fetal Thymus	thymus
12	chr11:67206800-67210400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:67206800-67210600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:67207000-67211200	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:67207000-67211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:67207200-67210400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:67207600-67210200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:67207800-67211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:67207800-67211200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:67208000-67210600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:67208000-67210800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:67208000-67211000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67208000-67211000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:67208000-67211200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:67208200-67210600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr11:67208200-67211200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:67208400-67210400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:67208400-67211200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:67209400-67210200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67209400-67210200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:67209400-67210200	Enhancers	K562	blood
32	chr11:67209400-67211000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:67209600-67210200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:67209600-67210200	Enhancers	Brain Hippocampus Middle	brain
35	chr11:67209600-67210200	Genic enhancers	Colon Smooth Muscle	Colon
36	chr11:67209600-67210200	Flanking Active TSS	Hela-S3	cervix
37	chr11:67209600-67210600	Flanking Active TSS	Stomach Mucosa	stomach
38	chr11:67209600-67210600	Enhancers	Dnd41	blood
39	chr11:67209600-67211800	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:67209800-67210200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:67209800-67210200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:67209800-67210200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:67209800-67210200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:67209800-67210200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:67209800-67210200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:67209800-67210200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:67209800-67210200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:67209800-67210200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:67209800-67210200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
50	chr11:67209800-67210200	Weak transcription	A549	lung

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