Variant report

Variant	rs367611226
Chromosome Location	chr11:63685030-63685031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
2	HDAC2	chr11:63684463-63685263	HepG2	liver:	n/a	n/a
3	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr11:63685014-63685575	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr11:63684457-63685997	Hela-S3	cervix:	n/a	chr11:63685353-63685363 chr11:63685039-63685049
6	EGR1	chr11:63684747-63685157	ECC-1	luminal epithelium:	n/a	chr11:63684903-63684916 chr11:63685042-63685055 chr11:63685042-63685055 chr11:63685041-63685051 chr11:63684904-63684913 chr11:63684900-63684914 chr11:63684902-63684916 chr11:63684904-63684914 chr11:63684903-63684916 chr11:63684904-63684914
7	SMARCC1	chr11:63684811-63686243	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr11:63683835-63686004	K562	blood:	n/a	chr11:63684246-63684254
9	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
10	CREB1	chr11:63684809-63685135	A549	lung:	n/a	n/a
11	HCFC1	chr11:63684350-63686140	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:63684295-63685818	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:63684773-63686607	HCT-116	colon:	n/a	n/a
14	TAF1	chr11:63684354-63685639	H1-neurons	neurons:	n/a	n/a
15	TCF12	chr11:63683863-63686057	A549	lung:	n/a	chr11:63683937-63683947 chr11:63684702-63684709
16	POLR2A	chr11:63685008-63688175	HCT-116	colon:	n/a	n/a
17	EGR1	chr11:63684747-63685095	K562	blood:	n/a	chr11:63684903-63684916 chr11:63685042-63685055 chr11:63685042-63685055 chr11:63685041-63685051 chr11:63684904-63684913 chr11:63684900-63684914 chr11:63684902-63684916 chr11:63684904-63684914 chr11:63684903-63684916 chr11:63684904-63684914
18	HA-E2F1	chr11:63684293-63685101	Hela-S3	cervix:	n/a	chr11:63685038-63685050 chr11:63685041-63685050
19	POLR2A	chr11:63684392-63686554	HCT-116	colon:	n/a	n/a
20	ZBTB7A	chr11:63684529-63686115	K562	blood:	n/a	n/a
21	HDAC2	chr11:63685023-63685539	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:63684306-63685995	SK-N-MC	brain:	n/a	n/a
23	MAZ	chr11:63684503-63686090	Hela-S3	cervix:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
24	REST	chr11:63683413-63686259	H1-neurons	neurons:	n/a	chr11:63685888-63685898 chr11:63683931-63683944 chr11:63683635-63683648 chr11:63684423-63684436 chr11:63683688-63683701 chr11:63684253-63684266 chr11:63685102-63685115
25	ZBTB7A	chr11:63683823-63685847	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
26	MAX	chr11:63684450-63686139	K562	blood:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
27	EGR1	chr11:63684526-63685074	K562	blood:	n/a	chr11:63684903-63684916 chr11:63685042-63685055 chr11:63685042-63685055 chr11:63685041-63685051 chr11:63684904-63684913 chr11:63684900-63684914 chr11:63684902-63684916 chr11:63684904-63684914 chr11:63684903-63684916 chr11:63684904-63684914
28	MAX	chr11:63683780-63686383	HepG2	liver:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
29	ZBTB7A	chr11:63683691-63686037	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
30	TCF12	chr11:63684308-63686086	ECC-1	luminal epithelium:	n/a	chr11:63684702-63684709
31	EP300	chr11:63684960-63685436	GM12878	blood:	n/a	chr11:63685251-63685264
32	POLR2A	chr11:63684377-63685106	K562	blood:	n/a	n/a
33	POLR2A	chr11:63684373-63686412	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr11:63684421-63687263	HCT-116	colon:	n/a	n/a
35	RCOR1	chr11:63685016-63685902	Hela-S3	cervix:	n/a	n/a
36	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr11:63684031-63685062	HepG2	liver:	n/a	n/a
38	PAX5	chr11:63684753-63685066	GM12892	blood:	n/a	n/a
39	SP1	chr11:63684518-63685094	A549	lung:	n/a	chr11:63685041-63685050 chr11:63684793-63684806 chr11:63684901-63684911 chr11:63685040-63685049 chr11:63684677-63684689 chr11:63685039-63685051 chr11:63684678-63684688 chr11:63684677-63684689 chr11:63684679-63684688 chr11:63685039-63685051 chr11:63685040-63685049 chr11:63684901-63684911 chr11:63684678-63684692
40	MAZ	chr11:63683620-63685977	IMR90	lung:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
41	HEY1	chr11:63684457-63685039	HepG2	liver:	n/a	chr11:63684513-63684528
42	SIN3A	chr11:63683280-63686060	H1-hESC	embryonic stem cell:	n/a	chr11:63683937-63683950 chr11:63683933-63683944 chr11:63683931-63683944 chr11:63684423-63684436 chr11:63684305-63684316
43	POLR2A	chr11:63684972-63689200	H1-hESC	embryonic stem cell:	n/a	n/a
44	E2F6	chr11:63684890-63685057	K562	blood:	n/a	chr11:63685038-63685050 chr11:63685041-63685050
45	MAX	chr11:63684312-63685148	ECC-1	luminal epithelium:	n/a	n/a
46	NR2F2	chr11:63684985-63686152	K562	blood:	n/a	n/a
47	MAZ	chr11:63684505-63685647	GM12878	blood:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
48	POLR2A	chr11:63684427-63685061	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr11:63683767-63688286	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:63683933-63685735	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
2	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
3	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
4	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
5	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
6	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
7	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
8	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
9	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
10	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
11	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
12	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
13	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
14	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
15	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:
16	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
17	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
18	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
19	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
20	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
21	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:
22	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000167770	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
16	esv3378640	chr11:63683601-63686149	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	esv3426165	chr11:63683826-63685724	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63685800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:63683400-63685400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:63683400-63685800	Active TSS	Hela-S3	cervix
16	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63683600-63685800	Active TSS	Fetal Brain Female	brain
18	chr11:63683800-63685200	Active TSS	NHDF-Ad	bronchial
19	chr11:63684000-63685600	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:63684200-63685200	Active TSS	Right Atrium	heart
21	chr11:63684200-63685800	Active TSS	Aorta	Aorta
22	chr11:63684400-63685200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:63684400-63685200	Enhancers	Lung	lung
24	chr11:63684400-63685200	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:63684400-63686000	Enhancers	Gastric	stomach
26	chr11:63684400-63687400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:63684600-63685200	Active TSS	HepG2	liver
28	chr11:63684600-63685400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr11:63684600-63688400	Enhancers	Fetal Brain Male	brain
30	chr11:63684800-63685200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:63684800-63685200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:63684800-63685400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:63684800-63685400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:63684800-63685400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:63684800-63685400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:63684800-63685400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:63684800-63685400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:63684800-63685400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr11:63684800-63685400	Flanking Active TSS	Placenta	Placenta
40	chr11:63684800-63685400	Flanking Active TSS	Fetal Stomach	stomach
41	chr11:63684800-63685400	Flanking Active TSS	Small Intestine	intestine
42	chr11:63684800-63685600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:63684800-63685600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:63684800-63685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:63684800-63685600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:63684800-63685600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:63684800-63685600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr11:63684800-63685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:63684800-63685600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:63684800-63685600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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