Variant report

Variant	rs12095962
Chromosome Location	chr1:161702478-161702479
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	chr1:161702286..161705058-chr1:161705873..161710501,6	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10917768	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12078337	1.00[YRI][hapmap]
rs60986778	1.00[AFR][1000 genomes]
rs61741806	0.85[AFR][1000 genomes]
rs73017404	1.00[AFR][1000 genomes]
rs73017406	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161697800-161706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:161698000-161702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:161698000-161703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:161698000-161703400	Enhancers	K562	blood
5	chr1:161698000-161706000	Enhancers	NHEK	skin
6	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:161698400-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:161698600-161705600	Weak transcription	A549	lung
9	chr1:161698800-161702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:161699200-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:161699200-161707400	Enhancers	HMEC	breast
12	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:161700600-161702600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:161700600-161702800	Weak transcription	HSMM	muscle
16	chr1:161700600-161702800	Weak transcription	NHLF	lung
17	chr1:161700600-161703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:161700600-161703000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:161700600-161705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:161700600-161705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:161700600-161706000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:161700600-161706200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:161700800-161702600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:161700800-161702600	Weak transcription	NHDF-Ad	bronchial
25	chr1:161700800-161702800	Weak transcription	HUVEC	blood vessel
26	chr1:161700800-161702800	Weak transcription	Osteobl	bone
27	chr1:161700800-161703000	Weak transcription	NH-A	brain
28	chr1:161700800-161705000	Weak transcription	GM12878-XiMat	blood
29	chr1:161700800-161705600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:161700800-161706000	Weak transcription	Hela-S3	cervix
31	chr1:161701000-161706000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:161701400-161704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:161701400-161706000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:161701600-161702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:161701800-161705600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:161702200-161703200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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