Variant report

Variant	rs2076232
Chromosome Location	chr1:209789467-209789468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209788388..209790663-chr1:209792015..209793530,2	K562	blood:
2	chr1:209785254..209787888-chr1:209788606..209790361,2	K562	blood:
3	chr1:209788000..209789545-chr1:209798332..209800305,2	K562	blood:

Variant related genes	Relation type
ENSG00000196878	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10489340	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12073223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12089972	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12090288	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12403733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12410975	1.00[CEU][hapmap]
rs17014889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17014906	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014942	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014955	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17015006	0.82[AMR][1000 genomes]
rs2072937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072939	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2072942	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2076348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2076349	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2076350	0.82[EUR][1000 genomes]
rs2076352	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229465	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2229466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235542	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282734	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282736	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282737	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36051870	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58679997	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59815577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60927005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs714971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:209777800-209793000	Weak transcription	Ovary	ovary
7	chr1:209777800-209796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:209778400-209791400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:209779600-209793400	Weak transcription	Thymus	Thymus
10	chr1:209780800-209791800	Weak transcription	Fetal Brain Male	brain
11	chr1:209781200-209791800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:209781600-209793600	Weak transcription	Esophagus	oesophagus
13	chr1:209781600-209793600	Weak transcription	Fetal Lung	lung
14	chr1:209784200-209791800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:209785400-209792000	Strong transcription	Fetal Intestine Small	intestine
16	chr1:209785400-209792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:209785800-209793600	Strong transcription	Fetal Stomach	stomach
18	chr1:209786200-209796200	Strong transcription	HMEC	breast
19	chr1:209786400-209796200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:209786600-209794600	Weak transcription	Pancreas	Pancrea
21	chr1:209786800-209800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:209787000-209792000	Strong transcription	Fetal Intestine Large	intestine
23	chr1:209787200-209795000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr1:209787400-209791200	Weak transcription	HSMMtube	muscle
26	chr1:209787400-209792000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:209787400-209816200	Strong transcription	NHEK	skin
28	chr1:209787600-209791400	Weak transcription	Stomach Mucosa	stomach
29	chr1:209787600-209791600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:209787800-209791800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:209788000-209791400	Strong transcription	Gastric	stomach
32	chr1:209788000-209793800	Weak transcription	Small Intestine	intestine
33	chr1:209788200-209792000	Strong transcription	Adipose Nuclei	Adipose
34	chr1:209788400-209791400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:209788400-209791600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:209788400-209796000	Enhancers	Psoas Muscle	Psoas
37	chr1:209788600-209791400	Strong transcription	Liver	Liver
38	chr1:209788600-209791800	Strong transcription	Colonic Mucosa	Colon
39	chr1:209788600-209792400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:209788800-209789600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:209788800-209789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:209788800-209790400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:209788800-209791600	Weak transcription	Spleen	Spleen
44	chr1:209788800-209793200	Enhancers	Fetal Heart	heart
45	chr1:209789000-209789600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:209789000-209802800	Strong transcription	Hela-S3	cervix
47	chr1:209789200-209793400	Enhancers	Left Ventricle	heart
48	chr1:209789200-209794800	Enhancers	Placenta	Placenta
49	chr1:209789200-209795400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:209789200-209795800	Enhancers	Right Atrium	heart

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