Variant report

Variant	rs11161561
Chromosome Location	chr1:85706113-85706114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85574806..85575788-chr1:85705239..85706783,9	MCF-7	breast:
2	chr1:85410308..85411228-chr1:85705720..85706844,7	MCF-7	breast:
3	chr1:85574818..85575693-chr1:85705751..85706603,4	MCF-7	breast:
4	chr1:85574980..85575495-chr1:85705766..85706699,2	K562	blood:
5	chr1:85666584..85668196-chr1:85704539..85707139,2	MCF-7	breast:
6	chr1:85409879..85410688-chr1:85705752..85706654,2	K562	blood:
7	chr1:85706037..85709032-chr1:85723528..85726746,4	K562	blood:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10873694	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12065219	0.90[GIH][hapmap]
rs12737823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7511694	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85705200-85707800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:85705400-85707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:85705600-85706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85705600-85706600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:85705600-85706600	Enhancers	Fetal Heart	heart
7	chr1:85705600-85706600	Enhancers	HSMM	muscle
8	chr1:85705600-85706800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:85705600-85707000	Enhancers	Colon Smooth Muscle	Colon
10	chr1:85705600-85707000	Enhancers	Osteobl	bone
11	chr1:85705600-85707200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85705600-85707200	Enhancers	Fetal Lung	lung
13	chr1:85705600-85707800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:85705800-85706400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:85705800-85706400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:85705800-85706600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:85705800-85707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:85705800-85707000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:85705800-85707000	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:85705800-85707000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:85705800-85707200	Enhancers	HSMMtube	muscle
22	chr1:85706000-85706200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:85706000-85706200	Enhancers	Lung	lung
24	chr1:85706000-85706400	Enhancers	NH-A	brain
25	chr1:85706000-85706800	Weak transcription	Pancreas	Pancrea
26	chr1:85706000-85707000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:85706000-85707000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:85706000-85707000	Enhancers	Stomach Mucosa	stomach
29	chr1:85706000-85707200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:85706000-85707400	Enhancers	Fetal Stomach	stomach
31	chr1:85706000-85709000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell

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