Variant report

Variant	rs2071010
Chromosome Location	chr11:71900964-71900965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71882037..71883991-chr11:71899030..71901488,2	K562	blood:
2	chr11:71899258..71901849-chr11:71937862..71940065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction
ENSG00000255860	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10751198	1.00[JPT][hapmap]
rs10898823	1.00[JPT][hapmap]
rs11235451	0.91[JPT][hapmap]
rs11235461	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235463	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235465	1.00[CEU][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11235466	1.00[CEU][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12366105	0.84[JPT][hapmap]
rs12418074	1.00[JPT][hapmap]
rs12419500	1.00[JPT][hapmap]
rs12799010	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12799376	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1540086	1.00[JPT][hapmap]
rs1970721	1.00[JPT][hapmap]
rs34030891	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34180002	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34465999	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34607504	0.92[EUR][1000 genomes]
rs35954619	0.94[EUR][1000 genomes]
rs36083292	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36147472	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67805606	0.94[EUR][1000 genomes]
rs72966477	0.83[EUR][1000 genomes]
rs7934420	0.82[CEU][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71892000-71906600	Weak transcription	Esophagus	oesophagus
2	chr11:71898400-71903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:71899400-71901800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:71899400-71902400	Enhancers	Fetal Lung	lung
5	chr11:71899600-71902000	Enhancers	Fetal Stomach	stomach
6	chr11:71899600-71903800	Enhancers	Fetal Muscle Leg	muscle
7	chr11:71899800-71903600	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:71900000-71901400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:71900000-71901400	Enhancers	Fetal Intestine Large	intestine
10	chr11:71900000-71904000	Enhancers	Placenta	Placenta
11	chr11:71900200-71901000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:71900200-71901000	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:71900200-71901600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:71900200-71901600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:71900200-71901800	Enhancers	Fetal Intestine Small	intestine
16	chr11:71900400-71903000	Enhancers	Hela-S3	cervix
17	chr11:71900600-71901000	Enhancers	Fetal Brain Female	brain
18	chr11:71900600-71901000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:71900600-71901200	Enhancers	Lung	lung
20	chr11:71900600-71901200	Enhancers	Pancreas	Pancrea
21	chr11:71900600-71901400	Enhancers	HSMM	muscle
22	chr11:71900600-71901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:71900600-71901800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:71900600-71902000	Enhancers	Brain Germinal Matrix	brain
25	chr11:71900600-71903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:71900600-71903600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:71900800-71901000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:71900800-71901000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:71900800-71901000	Enhancers	HepG2	liver
30	chr11:71900800-71901000	Flanking Active TSS	HSMMtube	muscle
31	chr11:71900800-71901200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr11:71900800-71901200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:71900800-71902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:71900800-71902800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:71900800-71903000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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