Variant report

Variant	rs16861206
Chromosome Location	chr2:173892146-173892147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173891912..173892966-chr2:174075041..174076147,6	MCF-7	breast:
2	chr2:173891955..173892797-chr2:174435667..174436691,3	K562	blood:
3	chr1:169210215..169210976-chr2:173891921..173892590,2	MCF-7	breast:
4	chr2:173891857..173892922-chr2:174074727..174076041,13	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12612593	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12614386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12615974	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12618296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034647	1.00[AFR][1000 genomes]
rs16861180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290376	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34252442	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35730673	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3769218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs3769221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268707	1.00[AFR][1000 genomes]
rs4296399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7585995	1.00[AFR][1000 genomes];0.97[ASN][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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173877200-173901600	Weak transcription	Gastric	stomach
5	chr2:173881200-173892400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:173883000-173892200	Weak transcription	Right Atrium	heart
9	chr2:173884800-173893000	Weak transcription	Right Ventricle	heart
10	chr2:173885400-173892600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:173887200-173892200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:173887200-173892400	Weak transcription	Hela-S3	cervix
13	chr2:173887200-173892600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:173887200-173893000	Weak transcription	Psoas Muscle	Psoas
15	chr2:173887400-173894800	Weak transcription	Left Ventricle	heart
16	chr2:173888000-173892600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:173888600-173892200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:173888600-173892600	Weak transcription	Ovary	ovary
19	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:173888800-173906600	Weak transcription	Lung	lung
21	chr2:173890000-173892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:173890600-173894000	Enhancers	NHDF-Ad	bronchial
23	chr2:173891000-173892200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:173891000-173896200	Weak transcription	Placenta	Placenta
25	chr2:173891000-173908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:173891200-173892600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:173891200-173892600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:173891400-173892600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:173891400-173894000	Enhancers	Fetal Lung	lung
30	chr2:173891400-173894200	Enhancers	Colon Smooth Muscle	Colon
31	chr2:173891400-173896400	Enhancers	Fetal Heart	heart
32	chr2:173891600-173892200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:173891600-173892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:173891600-173892600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:173891600-173893600	Weak transcription	Liver	Liver
36	chr2:173891800-173893000	Enhancers	A549	lung
37	chr2:173892000-173892200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:173892000-173892600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:173892000-173892600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:173892000-173892600	Active TSS	Stomach Smooth Muscle	stomach
41	chr2:173892000-173892800	Enhancers	Fetal Kidney	kidney
42	chr2:173892000-173893000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:173892000-173893000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:173892000-173893000	Enhancers	HMEC	breast
45	chr2:173892000-173893200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:173892000-173893200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:173892000-173894000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:173892000-173894000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:173892000-173894000	Enhancers	Fetal Stomach	stomach
50	chr2:173892000-173894000	Enhancers	NHLF	lung

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