Variant report

Variant	rs12119861
Chromosome Location	chr1:161985004-161985005
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	chr1:161983872..161987361-chr1:161988391..161990751,3	K562	blood:
2	chr1:161978649..161980514-chr1:161983821..161985651,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12120969	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12121431	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs12125293	0.92[EUR][1000 genomes]
rs12126296	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12130792	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16847270	1.00[CHB][hapmap]
rs16847428	1.00[CHB][hapmap]
rs2490421	1.00[CHB][hapmap]
rs57311038	0.87[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	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
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161974800-161987200	Weak transcription	NHLF	lung
2	chr1:161975200-161988600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:161979200-161993200	Weak transcription	Gastric	stomach
4	chr1:161979400-161986400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:161979600-161988200	Weak transcription	Psoas Muscle	Psoas
6	chr1:161979800-161988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:161980800-161988800	Weak transcription	Osteobl	bone
8	chr1:161981200-161988400	Weak transcription	Lung	lung
9	chr1:161981400-161989200	Weak transcription	Placenta	Placenta
10	chr1:161981600-161988200	Weak transcription	Aorta	Aorta
11	chr1:161981600-161989000	Weak transcription	Ovary	ovary
12	chr1:161982000-161986400	Strong transcription	NHDF-Ad	bronchial
13	chr1:161982400-161988400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:161982400-161988400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:161982600-161987200	Weak transcription	Right Atrium	heart
16	chr1:161982600-161989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:161982600-161990600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:161982800-161986600	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:161983000-161988000	Weak transcription	Fetal Heart	heart
20	chr1:161983000-161988200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:161983000-161991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:161983400-161985200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:161983400-161988200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:161983600-161985200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:161983600-161987800	Strong transcription	HSMM	muscle
26	chr1:161983600-161988400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:161983600-161988800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:161983600-161989000	Weak transcription	Brain Angular Gyrus	brain
29	chr1:161983600-161989400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:161983800-161985200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:161983800-161986400	Strong transcription	HSMMtube	muscle
32	chr1:161984000-161985400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:161984200-161985200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:161984200-161985400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:161984200-161985600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:161984400-161985200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:161984400-161985800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:161984400-161985800	Genic enhancers	Fetal Muscle Leg	muscle
39	chr1:161984600-161985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:161984600-161985800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:161984800-161985400	Strong transcription	Fetal Stomach	stomach
42	chr1:161985000-161985400	Enhancers	Pancreas	Pancrea
43	chr1:161985000-161990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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