Variant report

Variant	rs4474462
Chromosome Location	chr11:85908574-85908575
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	TEAD4	chr11:85908375-85908954	K562	blood:	n/a	n/a
2	MAFK	chr11:85908501-85908862	Hela-S3	cervix:	n/a	chr11:85908718-85908733
3	STAT3	chr11:85908483-85908919	MCF10A-Er-Src	breast:	n/a	n/a
4	BHLHE40	chr11:85908507-85908701	K562	blood:	n/a	n/a
5	IRF1	chr11:85907037-85908980	K562	blood:	n/a	n/a
6	RFX5	chr11:85907994-85908892	K562	blood:	n/a	n/a
7	GATA1	chr11:85907394-85909524	PBDE	blood:	n/a	chr11:85908503-85908513 chr11:85907557-85907573
8	TBL1XR1	chr11:85907184-85908948	K562	blood:	n/a	n/a
9	CEBPB	chr11:85908476-85908887	K562	blood:	n/a	n/a
10	STAT3	chr11:85908553-85908966	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr11:85907179-85908919	K562	blood:	n/a	chr11:85907523-85907537 chr11:85908441-85908450 chr11:85907260-85907270 chr11:85908311-85908318 chr11:85907282-85907291
12	CEBPB	chr11:85907911-85908953	K562	blood:	n/a	chr11:85908094-85908107
13	BACH1	chr11:85908386-85908904	K562	blood:	n/a	n/a
14	CTCF	chr11:85908500-85908684	K562	blood:	n/a	n/a
15	MAFF	chr11:85908019-85908894	K562	blood:	n/a	chr11:85908717-85908735
16	EP300	chr11:85908540-85908852	Hela-S3	cervix:	n/a	n/a
17	ATF1	chr11:85908517-85908871	K562	blood:	n/a	n/a
18	STAT5A	chr11:85908487-85908954	K562	blood:	n/a	n/a
19	MAFK	chr11:85908483-85908896	K562	blood:	n/a	chr11:85908718-85908733
20	FOS	chr11:85908559-85908913	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr11:85907933-85908777	K562	blood:	n/a	n/a
22	JUN	chr11:85907574-85909075	K562	blood:	n/a	n/a
23	JUND	chr11:85907126-85908878	K562	blood:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
24	RCOR1	chr11:85907188-85908858	K562	blood:	n/a	n/a
25	IRF1	chr11:85907928-85908897	K562	blood:	n/a	n/a
26	STAT3	chr11:85908555-85908913	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr11:85908494-85908928	K562	blood:	n/a	n/a
28	STAT5A	chr11:85908475-85908876	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85908463..85910477-chr11:85912676..85914784,2	K562	blood:
2	chr11:85902463..85904724-chr11:85908007..85910447,3	K562	blood:
3	chr11:85908094..85909994-chr11:85921014..85923973,2	K562	blood:
4	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11822620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11822899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12417008	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12422031	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210182	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210259	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17210343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17210350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17210546	1.00[EUR][1000 genomes]
rs17817610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817659	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17817701	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17817719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2036187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2374703	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374704	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34602206	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3920052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59478404	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61039312	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104068	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7105530	1.00[EUR][1000 genomes]
rs7114903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7115094	1.00[EUR][1000 genomes]
rs7116376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7939108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7944685	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:85905000-85912400	Weak transcription	HSMM	muscle
5	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
7	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
8	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
10	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:85906600-85908800	Enhancers	Brain Substantia Nigra	brain
13	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:85907000-85908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:85907000-85908800	Enhancers	NHEK	skin
16	chr11:85907000-85909000	Flanking Active TSS	K562	blood
17	chr11:85907000-85909600	Enhancers	Brain Hippocampus Middle	brain
18	chr11:85907200-85908600	Enhancers	Brain Angular Gyrus	brain
19	chr11:85907200-85909400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:85907400-85908600	Enhancers	Small Intestine	intestine
23	chr11:85907400-85909000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:85907400-85910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:85907600-85908800	Enhancers	Brain Anterior Caudate	brain
26	chr11:85907800-85911400	Weak transcription	Spleen	Spleen
27	chr11:85907800-85912400	Weak transcription	Fetal Kidney	kidney
28	chr11:85908000-85908600	Enhancers	Adipose Nuclei	Adipose
29	chr11:85908000-85909000	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:85908000-85909400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:85908000-85913400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:85908200-85908800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:85908200-85908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:85908200-85910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:85908200-85910800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:85908200-85911200	Enhancers	Hela-S3	cervix
37	chr11:85908200-85912400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:85908200-85913200	Weak transcription	Fetal Lung	lung
39	chr11:85908400-85909000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:85908400-85910400	Weak transcription	Ovary	ovary
41	chr11:85908400-85910400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:85908400-85913200	Weak transcription	Osteobl	bone

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