Variant report

Variant	rs2228418
Chromosome Location	chr11:67034266-67034267
allele	A/C
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	chr11:67033738-67034511	GM12892	blood:	n/a	n/a
2	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
3	ZBTB7A	chr11:67034141-67035014	ECC-1	luminal epithelium:	n/a	chr11:67034630-67034638 chr11:67034642-67034649
4	POLR2A	chr11:67033717-67034352	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:67033666-67034485	MCF-7	breast:	n/a	n/a
6	YY1	chr11:67033995-67034356	NT2-D1	testis:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
7	MAX	chr11:67033614-67034350	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:67033673-67034374	K562	blood:	n/a	n/a
9	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
10	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
11	POLR2A	chr11:67033491-67035804	K562	blood:	n/a	n/a
12	TAF1	chr11:67033651-67034319	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr11:67034177-67034875	H1-hESC	embryonic stem cell:	n/a	chr11:67034553-67034564
14	POLR2A	chr11:67033817-67034268	A549	lung:	n/a	n/a
15	YY1	chr11:67034026-67034330	HCT-116	colon:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034153-67034167 chr11:67034150-67034164
16	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
17	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
18	POLR2A	chr11:67033834-67034276	Gliobla	brain:	n/a	n/a
19	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
20	POLR2A	chr11:67033932-67034299	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr11:67034071-67035185	SK-N-SH	brain:	n/a	n/a
22	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
23	MAX	chr11:67033374-67034468	A549	lung:	n/a	n/a
24	POLR2A	chr11:67033783-67034299	A549	lung:	n/a	n/a
25	POLR2A	chr11:67033548-67034417	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr11:67033620-67034347	K562	blood:	n/a	n/a
27	MXI1	chr11:67034162-67034336	GM12878	blood:	n/a	n/a
28	HCFC1	chr11:67033056-67034902	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr11:67034034-67034616	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr11:67033926-67034384	HepG2	liver:	n/a	n/a
31	MXI1	chr11:67034197-67034391	Hela-S3	cervix:	n/a	n/a
32	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
33	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
34	POLR2A	chr11:67033732-67034641	GM18951	blood:	n/a	n/a
35	POLR2A	chr11:67033676-67034327	Hela-S3	cervix:	n/a	n/a
36	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
37	TBP	chr11:67033662-67034338	K562	blood:	n/a	n/a
38	MAX	chr11:67033997-67034443	K562	blood:	n/a	n/a
39	POLR2A	chr11:67033698-67034406	GM19099	blood:	n/a	n/a
40	YY1	chr11:67034057-67034480	H1-hESC	embryonic stem cell:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034153-67034167 chr11:67034150-67034164
41	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
42	MYC	chr11:67034151-67034296	NB4	blood:	n/a	n/a
43	YY1	chr11:67033992-67034387	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164
44	SIN3AK20	chr11:67034117-67034523	K562	blood:	n/a	n/a
45	POLR2A	chr11:67033945-67034353	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:67034082-67034351	HCT-116	colon:	n/a	n/a
47	CREB1	chr11:67034005-67034363	A549	lung:	n/a	n/a
48	POLR2A	chr11:67033683-67034428	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr11:67033574-67035690	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:67033731-67034361	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67034249-67034299	IMR90	lung:	fetal
2	chr11:67034249-67034299	Hela-S3	cervix:	n/a
3	chr11:67034251-67034301	MCF10A-Er-Src	breast:	n/a
4	chr11:67034249-67034299	SAEC	small airway:	n/a
5	chr11:67034249-67034299	GM12891	blood:	n/a
6	chr11:67034249-67034299	HNPCEpiC	eye:	n/a
7	chr11:67034249-67034299	U87	brain:	n/a
8	chr11:67034249-67034299	MCF-7	breast:	n/a
9	chr11:67034251-67034301	BE2_C	brain:	n/a
10	chr11:67034251-67034301	Hepatocyte	liver:	n/a
11	chr11:67034251-67034301	NT2-D1	testis:	n/a
12	chr11:67034249-67034299	CMK	blood:	n/a
13	chr11:67034249-67034299	HepG2	liver:	n/a
14	chr11:67034249-67034299	HEK293	kidney:	embryo
15	chr11:67034251-67034301	GM06990	blood:	n/a
16	chr11:67034249-67034299	ECC-1	luminal epithelium:	n/a
17	chr11:67034249-67034299	AG09319	gingival:	n/a
18	chr11:67034249-67034299	NT2-D1	testis:	n/a
19	chr11:67034251-67034301	NB4	blood:	n/a
20	chr11:67034249-67034299	AoSMC	blood vessel:	n/a
21	chr11:67034249-67034299	NB4	blood:	n/a
22	chr11:67034249-67034299	AG04450	lung:	fetal
23	chr11:67034251-67034301	Jurkat	blood:	n/a
24	chr11:67034251-67034301	AG04449	skin:	fetal
25	chr11:67034251-67034301	AG04450	lung:	fetal
26	chr11:67034251-67034301	Hela-S3	cervix:	n/a
27	chr11:67034249-67034299	NH-A	brain:	n/a
28	chr11:67034251-67034301	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:67034251-67034301	SK-N-MC	brain:	n/a
30	chr11:67034251-67034301	AoSMC	blood vessel:	n/a
31	chr11:67034251-67034301	K562	blood:	n/a
32	chr11:67034251-67034301	SK-N-SH_RA	brain:	n/a
33	chr11:67034249-67034299	NHDF-neo	bronchial:	n/a
34	chr11:67034251-67034301	HRPEpiC	eye:	n/a
35	chr11:67034251-67034301	NH-A	brain:	n/a
36	chr11:67034251-67034301	NHBE	bronchial:	n/a
37	chr11:67034251-67034301	NHDF-neo	bronchial:	n/a
38	chr11:67034251-67034301	AG09319	gingival:	n/a
39	chr11:67034249-67034299	HRPEpiC	eye:	n/a
40	chr11:67034251-67034301	AG09309	skin:	n/a
41	chr11:67034249-67034299	HCF	heart:	n/a
42	chr11:67034249-67034299	NHBE	bronchial:	n/a
43	chr11:67034251-67034301	CMK	blood:	n/a
44	chr11:67034249-67034299	HRE	kidney:	n/a
45	chr11:67034251-67034301	ECC-1	luminal epithelium:	n/a
46	chr11:67034249-67034299	HUVEC	blood vessel:	n/a
47	chr11:67034251-67034301	BJ	skin:	n/a
48	chr11:67034249-67034299	AG09309	skin:	n/a
49	chr11:67034249-67034299	RPTEC	kidney:	n/a
50	chr11:67034249-67034299	HCT-116	colon:	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	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
12	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:

Variant related genes	Relation type
ADRBK1	TF binding region
ADRBK1	CpG island
ENSG00000172613	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175505	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67033200-67034600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:67033400-67034600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67033400-67035000	Active TSS	Fetal Kidney	kidney
4	chr11:67033400-67035000	Active TSS	A549	lung
5	chr11:67033400-67035400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:67033600-67034400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:67033600-67034600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:67033600-67034600	Active TSS	Primary hematopoietic stem cells	blood
9	chr11:67033600-67034600	Active TSS	Brain Germinal Matrix	brain
10	chr11:67033600-67034800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:67033600-67034800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:67033600-67034800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:67033600-67034800	Active TSS	Brain Anterior Caudate	brain
16	chr11:67033600-67034800	Active TSS	Brain Substantia Nigra	brain
17	chr11:67033600-67034800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:67033600-67034800	Active TSS	Left Ventricle	heart
19	chr11:67033600-67035000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:67033600-67035000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:67033600-67035000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:67033600-67035000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:67033600-67035000	Active TSS	Aorta	Aorta
24	chr11:67033600-67035000	Active TSS	Colon Smooth Muscle	Colon
25	chr11:67033600-67035000	Active TSS	Fetal Lung	lung
26	chr11:67033600-67035000	Active TSS	Ovary	ovary
27	chr11:67033600-67035000	Active TSS	HSMM	muscle
28	chr11:67033600-67035000	Active TSS	NHDF-Ad	bronchial
29	chr11:67033600-67035200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:67033600-67035200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:67033600-67035200	Active TSS	HSMMtube	muscle
32	chr11:67033600-67035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:67033600-67035600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:67033600-67035600	Active TSS	Primary T cells from cord blood	blood
35	chr11:67033600-67035800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:67033800-67034400	Active TSS	Primary B cells from cord blood	blood
37	chr11:67033800-67034400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:67033800-67034400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:67033800-67034400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:67033800-67034400	Active TSS	Adipose Nuclei	Adipose
41	chr11:67033800-67034400	Active TSS	Colonic Mucosa	Colon
42	chr11:67033800-67034400	Weak transcription	Stomach Mucosa	stomach
43	chr11:67033800-67034400	Active TSS	Stomach Smooth Muscle	stomach
44	chr11:67033800-67034600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:67033800-67034600	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:67033800-67034600	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:67033800-67034600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:67033800-67034600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:67033800-67034600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:67033800-67034600	Active TSS	Liver	Liver

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