Variant report

Variant	rs286927
Chromosome Location	chr11:34641598-34641599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34640457..34642067-chr11:34645201..34647926,2	K562	blood:
2	chr11:34639668..34642067-chr11:34645120..34646701,2	K562	blood:

Variant related genes	Relation type
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 17 )
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];0.82[EUR][1000 genomes]
rs286911	0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs286912	0.87[ASW][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs286914	0.89[EUR][1000 genomes]
rs286919	0.81[ASN][1000 genomes]
rs286920	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]
rs286921	0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs286926	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs443816	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs717582	0.82[JPT][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34625400-34642800	Weak transcription	Gastric	stomach
3	chr11:34634000-34643200	Weak transcription	Lung	lung
4	chr11:34635000-34643400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:34635200-34642000	Weak transcription	Esophagus	oesophagus
6	chr11:34636200-34644000	Enhancers	K562	blood
7	chr11:34636400-34641800	Weak transcription	Fetal Intestine Large	intestine
8	chr11:34637200-34641600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:34637800-34642000	Enhancers	Stomach Mucosa	stomach
10	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:34639000-34641600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
13	chr11:34640000-34643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:34640400-34641800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:34640400-34642000	Enhancers	Pancreas	Pancrea
16	chr11:34640400-34643200	Enhancers	Placenta	Placenta
17	chr11:34640800-34641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:34641000-34641600	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:34641000-34642000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34641000-34642800	Enhancers	Fetal Intestine Small	intestine
21	chr11:34641000-34643400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:34641200-34642400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:34641400-34641800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:34641400-34642000	Enhancers	NHEK	skin
25	chr11:34641400-34642200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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