Variant report

Variant	rs286920
Chromosome Location	chr11:34643780-34643781
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	YY1	chr11:34643440-34643816	K562	blood:	n/a	chr11:34643558-34643574

No.	Distal block	Cell Line	Cell type
1	chr11:34642981..34644601-chr11:34653348..34655427,2	K562	blood:
2	chr11:34643086..34644601-chr11:34653927..34655826,2	K562	blood:
3	chr11:34641972..34644254-chr11:34644762..34647514,2	MCF-7	breast:

Variant related genes	Relation type
EHF	TF binding region
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10768085	0.83[YRI][hapmap]
rs1466209	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs286911	0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs286912	0.87[ASW][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs286914	0.89[EUR][1000 genomes]
rs286919	0.82[ASN][1000 genomes]
rs286921	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs286926	0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs286927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443816	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs717582	0.82[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34636200-34644000	Enhancers	K562	blood
2	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
4	chr11:34641800-34644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
6	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
9	chr11:34642400-34644400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:34642400-34644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:34642400-34645400	Active TSS	Colonic Mucosa	Colon
12	chr11:34642400-34645400	Active TSS	Duodenum Mucosa	Duodenum
13	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
15	chr11:34642600-34644000	Active TSS	Fetal Kidney	kidney
16	chr11:34642600-34644200	Active TSS	Fetal Stomach	stomach
17	chr11:34642600-34644200	Flanking Active TSS	HMEC	breast
18	chr11:34642800-34647000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:34642800-34647200	Active TSS	Gastric	stomach
20	chr11:34642800-34647200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:34643000-34644000	Enhancers	Brain Substantia Nigra	brain
22	chr11:34643000-34644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:34643000-34644200	Enhancers	Brain Anterior Caudate	brain
24	chr11:34643200-34644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:34643200-34644000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:34643200-34644000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr11:34643200-34644000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr11:34643200-34644000	Active TSS	Lung	lung
29	chr11:34643200-34644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:34643200-34644200	Enhancers	Brain Hippocampus Middle	brain
31	chr11:34643200-34644200	Enhancers	HepG2	liver
32	chr11:34643200-34644400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:34643400-34643800	Enhancers	HSMM	muscle
34	chr11:34643400-34643800	Enhancers	NH-A	brain
35	chr11:34643400-34643800	Flanking Active TSS	NHEK	skin
36	chr11:34643400-34644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:34643400-34644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:34643400-34644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:34643400-34644000	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:34643400-34644000	Enhancers	A549	lung
41	chr11:34643400-34644000	Enhancers	Hela-S3	cervix
42	chr11:34643400-34644000	Enhancers	HSMMtube	muscle
43	chr11:34643400-34644000	Enhancers	NHDF-Ad	bronchial
44	chr11:34643400-34644000	Enhancers	NHLF	lung
45	chr11:34643400-34644000	Enhancers	Osteobl	bone
46	chr11:34643400-34645200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:34643600-34643800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:34643600-34643800	Enhancers	Fetal Intestine Large	intestine
49	chr11:34643600-34644000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:34643600-34644000	Flanking Active TSS	Pancreas	Pancrea

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