Variant report

Variant	rs11771844
Chromosome Location	chr7:150675910-150675911
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	RCOR1	chr7:150675352-150676652	K562	blood:	n/a	n/a
2	ZNF263	chr7:150675551-150676770	HEK293-T-REx	kidney:	n/a	chr7:150676560-150676569
3	TCF7L2	chr7:150675789-150676367	HEK293	kidney:	n/a	chr7:150676155-150676169 chr7:150676154-150676170
4	MAZ	chr7:150675175-150676745	IMR90	lung:	n/a	chr7:150676336-150676346
5	MAX	chr7:150675578-150676363	NB4	blood:	n/a	chr7:150676336-150676346
6	KAP1	chr7:150675665-150676276	U2OS	brain:	n/a	n/a
7	MXI1	chr7:150667686-150678267	SK-N-SH	brain:	n/a	chr7:150668498-150668513 chr7:150668500-150668515
8	POLR2A	chr7:150675461-150675952	SK-N-MC	brain:	n/a	n/a
9	TCF7L2	chr7:150675895-150676367	PANC-1	pancreas:	n/a	chr7:150676155-150676169 chr7:150676154-150676170
10	REST	chr7:150674299-150677276	H1-neurons	neurons:	n/a	chr7:150676665-150676685 chr7:150676666-150676684 chr7:150676421-150676434 chr7:150675568-150675581 chr7:150676665-150676685 chr7:150676295-150676315
11	TEAD4	chr7:150675478-150676738	K562	blood:	n/a	n/a
12	TAF1	chr7:150675354-150676588	H1-neurons	neurons:	n/a	n/a
13	GABPA	chr7:150675336-150676853	K562	blood:	n/a	chr7:150676550-150676559 chr7:150676406-150676415
14	POLR2A	chr7:150674435-150677141	H1-neurons	neurons:	n/a	n/a
15	MAX	chr7:150675452-150675992	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr7:150675581-150676266	K562	blood:	n/a	n/a
17	MAZ	chr7:150675337-150676410	GM12878	blood:	n/a	chr7:150676336-150676346
18	HDAC2	chr7:150675479-150675927	K562	blood:	n/a	chr7:150675890-150675904
19	MAX	chr7:150674899-150676732	K562	blood:	n/a	chr7:150676336-150676346
20	NR2F2	chr7:150675422-150676612	K562	blood:	n/a	n/a
21	MAX	chr7:150675399-150676030	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr7:150675066-150676870	H1-hESC	embryonic stem cell:	n/a	chr7:150676337-150676350
23	CBX3	chr7:150675464-150676565	K562	blood:	n/a	n/a
24	SIN3AK20	chr7:150675864-150676776	H1-hESC	embryonic stem cell:	n/a	n/a
25	KAP1	chr7:150675717-150676201	HEK293	kidney:	n/a	n/a
26	ZBTB7A	chr7:150674547-150676739	K562	blood:	n/a	n/a
27	RAD21	chr7:150675446-150678328	SK-N-SH	brain:	n/a	chr7:150676868-150676887 chr7:150677600-150677610
28	E2F6	chr7:150675494-150676067	H1-hESC	embryonic stem cell:	n/a	n/a
29	TRIM28	chr7:150675789-150676281	K562	blood:	n/a	n/a
30	ZBTB7A	chr7:150675303-150676497	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr7:150675384-150676295	H1-hESC	embryonic stem cell:	n/a	n/a
32	STAT5A	chr7:150675647-150676219	K562	blood:	n/a	chr7:150675883-150675890
33	TCF7L2	chr7:150675629-150676838	HCT-116	colon:	n/a	chr7:150676155-150676169 chr7:150676730-150676739 chr7:150676154-150676170 chr7:150676728-150676738 chr7:150676727-150676741
34	SP1	chr7:150675455-150676517	H1-hESC	embryonic stem cell:	n/a	chr7:150676328-150676340 chr7:150676330-150676339 chr7:150676329-150676339 chr7:150675682-150675696 chr7:150676329-150676338 chr7:150676329-150676343 chr7:150676328-150676340 chr7:150675519-150675540
35	POLR2A	chr7:150675182-150676364	Raji	blood:	n/a	n/a
36	MAZ	chr7:150674925-150676710	K562	blood:	n/a	chr7:150676336-150676346
37	MXI1	chr7:150675566-150675970	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:150675452-150676344	K562	blood:	n/a	n/a
39	POLR2A	chr7:150674365-150677052	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr7:150675603-150676499	K562	blood:	n/a	n/a
41	GABPA	chr7:150675905-150676261	K562	blood:	n/a	n/a
42	ZBTB7A	chr7:150675376-150676016	ECC-1	luminal epithelium:	n/a	n/a
43	ZBTB7A	chr7:150675155-150676816	K562	blood:	n/a	n/a
44	JUND	chr7:150675570-150676529	K562	blood:	n/a	chr7:150676450-150676461
45	CEBPD	chr7:150675762-150676300	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150661579..150663428-chr7:150675690..150677350,2	MCF-7	breast:
2	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
3	chr7:150675659..150676250-chr7:150705407..150706353,2	K562	blood:
4	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
5	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
6	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000106526	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13307588	0.83[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
19	esv3339760	chr7:150673844-150676392	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	esv3331100	chr7:150674019-150676492	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	esv3403395	chr7:150674469-150676667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
22	esv2061233	chr7:150675820-150676201	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	esv3387100	chr7:150675892-150676169	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150673600-150676600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150674200-150676000	Active TSS	Left Ventricle	heart
3	chr7:150674200-150676400	Active TSS	Right Atrium	heart
4	chr7:150674600-150676000	Enhancers	Liver	Liver
5	chr7:150674600-150676400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr7:150674600-150676600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:150674600-150676600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:150674600-150676600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:150674600-150676600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:150674600-150676600	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:150674600-150676800	Active TSS	Fetal Brain Female	brain
12	chr7:150674800-150676000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:150674800-150676000	Active TSS	HSMMtube	muscle
14	chr7:150674800-150676600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:150674800-150676600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:150674800-150676600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:150674800-150676600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:150674800-150676600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:150674800-150676600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:150674800-150676600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:150674800-150676600	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:150674800-150676600	Active TSS	Brain Germinal Matrix	brain
23	chr7:150674800-150676800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:150674800-150676800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:150675200-150676000	Bivalent/Poised TSS	HMEC	breast
26	chr7:150675200-150676400	Active TSS	Aorta	Aorta
27	chr7:150675200-150676600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:150675200-150676600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:150675200-150676800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr7:150675400-150677400	Enhancers	Spleen	Spleen
31	chr7:150675600-150676000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:150675600-150676000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
34	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr7:150675600-150676000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
42	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:150675600-150676000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
46	chr7:150675600-150676000	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr7:150675600-150676000	Flanking Active TSS	Fetal Brain Male	brain
50	chr7:150675600-150676000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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