Variant report

Variant	rs11161608
Chromosome Location	chr1:85860482-85860483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489511	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10747319	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10747320	1.00[AFR][1000 genomes]
rs2124138	1.00[AFR][1000 genomes]
rs233048	1.00[YRI][hapmap]
rs233052	1.00[AFR][1000 genomes]
rs233073	1.00[YRI][hapmap]
rs34102729	1.00[AFR][1000 genomes]
rs641864	1.00[YRI][hapmap]
rs684569	1.00[YRI][hapmap]
rs7526667	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7532994	1.00[AFR][1000 genomes]
rs7552422	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
3	chr1:85849400-85861600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:85849400-85863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85850800-85863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:85852400-85863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85852400-85864200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:85853200-85861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85853600-85861800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85853800-85861600	Weak transcription	NHDF-Ad	bronchial
11	chr1:85853800-85864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:85854000-85861800	Weak transcription	Osteobl	bone
13	chr1:85854600-85862800	Weak transcription	Liver	Liver
14	chr1:85854600-85863400	Weak transcription	HUVEC	blood vessel
15	chr1:85855200-85870000	Weak transcription	Fetal Stomach	stomach
16	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:85858600-85860600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:85858600-85860600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:85858800-85861000	Strong transcription	HSMM	muscle
20	chr1:85858800-85863600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:85859000-85860600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85859400-85865000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:85860000-85860600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:85860000-85860600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:85860200-85861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:85860200-85861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:85860200-85861600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:85860200-85861600	Weak transcription	NH-A	brain
29	chr1:85860200-85862000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:85860200-85862800	Weak transcription	NHLF	lung
31	chr1:85860400-85861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:85860400-85862000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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