Variant report

Variant	rs370301772
Chromosome Location	chr11:67034192-67034193
allele	C/T
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	chr11:67033701-67034244	HEK293	kidney:	n/a	n/a
2	POLR2A	chr11:67033738-67034511	GM12892	blood:	n/a	n/a
3	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
4	ZBTB7A	chr11:67034141-67035014	ECC-1	luminal epithelium:	n/a	chr11:67034630-67034638 chr11:67034642-67034649
5	POLR2A	chr11:67033717-67034352	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:67033666-67034485	MCF-7	breast:	n/a	n/a
7	YY1	chr11:67033995-67034356	NT2-D1	testis:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
8	MAX	chr11:67033614-67034350	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:67033673-67034374	K562	blood:	n/a	n/a
10	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
11	YY1	chr11:67033621-67034433	GM12891	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
12	POLR2A	chr11:67033491-67035804	K562	blood:	n/a	n/a
13	TAF1	chr11:67033651-67034319	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr11:67034177-67034875	H1-hESC	embryonic stem cell:	n/a	chr11:67034553-67034564
15	POLR2A	chr11:67033817-67034268	A549	lung:	n/a	n/a
16	YY1	chr11:67034026-67034330	HCT-116	colon:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034153-67034167 chr11:67034150-67034164
17	YY1	chr11:67033586-67034549	GM12878	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
18	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
19	POLR2A	chr11:67033834-67034276	Gliobla	brain:	n/a	n/a
20	YY1	chr11:67033968-67034404	SK-N-SH	brain:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
21	POLR2A	chr11:67033932-67034299	H1-hESC	embryonic stem cell:	n/a	n/a
22	MXI1	chr11:67034071-67035185	SK-N-SH	brain:	n/a	n/a
23	YY1	chr11:67033570-67035049	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
24	MAX	chr11:67033374-67034468	A549	lung:	n/a	n/a
25	HEY1	chr11:67033625-67034194	HepG2	liver:	n/a	chr11:67033948-67033963 chr11:67033813-67033828
26	POLR2A	chr11:67033783-67034299	A549	lung:	n/a	n/a
27	POLR2A	chr11:67033919-67034224	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:67033548-67034417	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr11:67033620-67034347	K562	blood:	n/a	n/a
30	MXI1	chr11:67034162-67034336	GM12878	blood:	n/a	n/a
31	HCFC1	chr11:67033056-67034902	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr11:67034034-67034616	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr11:67033926-67034384	HepG2	liver:	n/a	n/a
34	YY1	chr11:67033591-67034540	GM12878	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
35	YY1	chr11:67033582-67035268	GM12892	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
36	YY1	chr11:67034094-67034234	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034153-67034167 chr11:67034150-67034164
37	MAX	chr11:67034123-67034260	K562	blood:	n/a	n/a
38	POLR2A	chr11:67033732-67034641	GM18951	blood:	n/a	n/a
39	POLR2A	chr11:67033676-67034327	Hela-S3	cervix:	n/a	n/a
40	YY1	chr11:67033976-67034452	SK-N-SH_RA	brain:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
41	TBP	chr11:67033662-67034338	K562	blood:	n/a	n/a
42	MAX	chr11:67033997-67034443	K562	blood:	n/a	n/a
43	YY1	chr11:67034003-67034224	HCT-116	colon:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
44	POLR2A	chr11:67033698-67034406	GM19099	blood:	n/a	n/a
45	YY1	chr11:67034057-67034480	H1-hESC	embryonic stem cell:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034153-67034167 chr11:67034150-67034164
46	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
47	MYC	chr11:67034151-67034296	NB4	blood:	n/a	n/a
48	YY1	chr11:67033992-67034387	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
49	SIN3AK20	chr11:67034117-67034523	K562	blood:	n/a	n/a
50	POLR2A	chr11:67033945-67034353	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
5	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:
6	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
7	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
8	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
9	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
10	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
11	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172613	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	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
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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
9	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
12	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
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 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	chr11:67031000-67034200	Weak transcription	Gastric	stomach
2	chr11:67033200-67034600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:67033400-67034200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67033400-67034600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67033400-67035000	Active TSS	Fetal Kidney	kidney
6	chr11:67033400-67035000	Active TSS	A549	lung
7	chr11:67033400-67035400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:67033600-67034200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:67033600-67034400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:67033600-67034600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:67033600-67034600	Active TSS	Primary hematopoietic stem cells	blood
12	chr11:67033600-67034600	Active TSS	Brain Germinal Matrix	brain
13	chr11:67033600-67034800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:67033600-67034800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:67033600-67034800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:67033600-67034800	Active TSS	Brain Anterior Caudate	brain
19	chr11:67033600-67034800	Active TSS	Brain Substantia Nigra	brain
20	chr11:67033600-67034800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:67033600-67034800	Active TSS	Left Ventricle	heart
22	chr11:67033600-67035000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:67033600-67035000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:67033600-67035000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:67033600-67035000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:67033600-67035000	Active TSS	Aorta	Aorta
27	chr11:67033600-67035000	Active TSS	Colon Smooth Muscle	Colon
28	chr11:67033600-67035000	Active TSS	Fetal Lung	lung
29	chr11:67033600-67035000	Active TSS	Ovary	ovary
30	chr11:67033600-67035000	Active TSS	HSMM	muscle
31	chr11:67033600-67035000	Active TSS	NHDF-Ad	bronchial
32	chr11:67033600-67035200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:67033600-67035200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:67033600-67035200	Active TSS	HSMMtube	muscle
35	chr11:67033600-67035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:67033600-67035600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:67033600-67035600	Active TSS	Primary T cells from cord blood	blood
38	chr11:67033600-67035800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:67033800-67034400	Active TSS	Primary B cells from cord blood	blood
40	chr11:67033800-67034400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:67033800-67034400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:67033800-67034400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:67033800-67034400	Active TSS	Adipose Nuclei	Adipose
44	chr11:67033800-67034400	Active TSS	Colonic Mucosa	Colon
45	chr11:67033800-67034400	Weak transcription	Stomach Mucosa	stomach
46	chr11:67033800-67034400	Active TSS	Stomach Smooth Muscle	stomach
47	chr11:67033800-67034600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:67033800-67034600	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr11:67033800-67034600	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:67033800-67034600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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