Variant report

Variant	rs371870369
Chromosome Location	chr11:57416429-57416430
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	chr11:57416408-57416680	U87	brain:	n/a	n/a
2	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
6	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
7	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr11:57413866-57417706	H1-hESC	embryonic stem cell:	n/a	chr11:57414716-57414729 chr11:57416870-57416883 chr11:57415091-57415101 chr11:57417329-57417340
11	REST	chr11:57415812-57418215	H1-neurons	neurons:	n/a	chr11:57416867-57416880 chr11:57416879-57416892 chr11:57415863-57415871 chr11:57417025-57417038 chr11:57416863-57416883
12	GATA1	chr11:57414768-57416490	PBDE	blood:	n/a	chr11:57415466-57415477 chr11:57414866-57414875 chr11:57416312-57416320
13	MXI1	chr11:57415474-57416980	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr11:57416394-57417221	PFSK-1	brain:	n/a	n/a
15	PBX3	chr11:57416315-57417960	A549	lung:	n/a	n/a
16	POLR2A	chr11:57415199-57417266	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:57411980-57417263	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA1	chr11:57415371-57417473	K562	blood:	n/a	chr11:57417416-57417425 chr11:57416594-57416602 chr11:57415466-57415477 chr11:57416312-57416320
19	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
20	POLR2A	chr11:57415863-57417166	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr11:57416366-57416683	U87	brain:	n/a	n/a
22	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
24	SREBP1	chr11:57416427-57417248	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:57412040-57416702	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
27	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr11:57415624-57417063	A549	lung:	n/a	chr11:57415995-57416002
29	ATF2	chr11:57415861-57417283	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF143	chr11:57416277-57417619	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAZ	chr11:57416322-57418147	IMR90	lung:	n/a	chr11:57417022-57417032
32	MAX	chr11:57416415-57417203	H1-hESC	embryonic stem cell:	n/a	chr11:57417022-57417032
33	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:57415819-57416436	Gliobla	brain:	n/a	n/a
36	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:57410100-57417938	PBDE	blood:	n/a	n/a
38	POLR2A	chr11:57414193-57418271	A549	lung:	n/a	n/a
39	POLR2A	chr11:57416417-57417749	HUVEC	blood vessel:	n/a	n/a
40	SIN3AK20	chr11:57416294-57417077	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTBP2	chr11:57415650-57417186	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:57412737-57417005	U87	brain:	n/a	n/a
43	ATF2	chr11:57416220-57417248	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF7	chr11:57415769-57417217	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCL3	chr11:57414037-57418152	A549	lung:	n/a	chr11:57415102-57415111 chr11:57416249-57416262 chr11:57417016-57417025
46	POLR2A	chr11:57412861-57418587	ECC-1	luminal epithelium:	n/a	n/a
47	SP4	chr11:57416353-57417235	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:57412772-57417005	U87	brain:	n/a	n/a
49	POLR2A	chr11:57412977-57416985	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57114064..57115685-chr11:57415196..57416779,2	K562	blood:
2	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
3	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
4	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:

Variant related genes	Relation type
ENSG00000254602	TF binding region
CLP1	TF binding region
YPEL4	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000156587	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000109991	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS 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	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
8	esv3425337	chr11:57416201-57418749	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57412200-57416800	Enhancers	Lung	lung
2	chr11:57412200-57416800	Enhancers	Spleen	Spleen
3	chr11:57412200-57417000	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr11:57413000-57416800	Bivalent Enhancer	NH-A	brain
5	chr11:57413200-57416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57413200-57417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:57413400-57416600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
10	chr11:57413600-57418200	Enhancers	HMEC	breast
11	chr11:57413800-57416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:57414200-57416600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr11:57414200-57416800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:57414200-57417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:57414200-57417200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:57414200-57417200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:57414200-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:57414400-57416600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:57414800-57416600	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr11:57415200-57416600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:57415200-57416600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:57415400-57416600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:57415400-57416600	Bivalent Enhancer	Fetal Kidney	kidney
27	chr11:57415400-57416800	Bivalent Enhancer	Left Ventricle	heart
28	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr11:57415400-57417200	Flanking Active TSS	HSMM	muscle
31	chr11:57415400-57417200	Flanking Active TSS	HSMMtube	muscle
32	chr11:57415400-57418000	Enhancers	Gastric	stomach
33	chr11:57415600-57416600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:57415600-57416600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr11:57415600-57416600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
37	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr11:57415600-57416800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:57415600-57417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:57415600-57417200	Flanking Active TSS	K562	blood
43	chr11:57415800-57416600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr11:57415800-57416600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr11:57415800-57416600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr11:57415800-57416600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:57415800-57416600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr11:57415800-57416600	Flanking Active TSS	Ovary	ovary
49	chr11:57415800-57416600	Bivalent Enhancer	A549	lung
50	chr11:57415800-57416800	Bivalent Enhancer	GM12878-XiMat	blood

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