Variant report

Variant	rs12635895
Chromosome Location	chr3:160978324-160978325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160974756..160978821-chr3:160984556..160987132,3	MCF-7	breast:
2	chr3:160977228..160979405-chr3:160981086..160982720,3	MCF-7	breast:
3	chr3:160977108..160997706-chr3:161077424..161093939,169	MCF-7	breast:
4	chr3:160977409..160979546-chr3:160987399..160989130,2	MCF-7	breast:
5	chr3:160977550..160980456-chr3:160980555..160982387,2	K562	blood:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12631095	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12631808	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12632351	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12632514	1.00[EUR][1000 genomes]
rs12632632	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12632686	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12634108	1.00[EUR][1000 genomes]
rs12634781	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12636473	1.00[EUR][1000 genomes]
rs12639236	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832385	1.00[EUR][1000 genomes]
rs2404345	1.00[EUR][1000 genomes]
rs34868645	1.00[EUR][1000 genomes]
rs55914832	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56230831	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56378191	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57175632	1.00[EUR][1000 genomes]
rs57212203	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57649180	1.00[EUR][1000 genomes]
rs58013864	1.00[EUR][1000 genomes]
rs58404146	1.00[EUR][1000 genomes]
rs58550445	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60172527	1.00[EUR][1000 genomes]
rs61560039	1.00[EUR][1000 genomes]
rs61631170	1.00[EUR][1000 genomes]
rs6773475	1.00[EUR][1000 genomes]
rs72494862	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72494864	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73021435	1.00[EUR][1000 genomes]
rs73875444	1.00[EUR][1000 genomes]
rs73875481	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73875497	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73875623	1.00[EUR][1000 genomes]
rs73878306	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73878333	1.00[EUR][1000 genomes]
rs73878336	1.00[EUR][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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160939800-160995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:160941000-160983000	Weak transcription	Spleen	Spleen
3	chr3:160941000-160984600	Weak transcription	Small Intestine	intestine
4	chr3:160941000-160993400	Weak transcription	Pancreas	Pancrea
5	chr3:160956400-160993000	Weak transcription	Esophagus	oesophagus
6	chr3:160958600-160983600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:160964200-160978600	Strong transcription	A549	lung
8	chr3:160966200-160980800	Weak transcription	Fetal Stomach	stomach
9	chr3:160966200-160983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:160966200-160987400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:160966200-160993200	Weak transcription	Right Ventricle	heart
12	chr3:160966400-160982000	Weak transcription	Fetal Intestine Small	intestine
13	chr3:160968800-160992200	Weak transcription	Brain Angular Gyrus	brain
14	chr3:160970200-160979000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:160970200-160980800	Weak transcription	NHEK	skin
16	chr3:160970200-160983800	Weak transcription	NHLF	lung
17	chr3:160970400-160980600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:160970400-160984200	Weak transcription	Hela-S3	cervix
19	chr3:160970400-160995600	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:160970800-160981800	Weak transcription	Lung	lung
21	chr3:160970800-160982200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:160970800-160995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:160971000-160981000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:160971000-160981800	Weak transcription	Ovary	ovary
25	chr3:160971000-160982200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:160971000-160983600	Weak transcription	Thymus	Thymus
27	chr3:160971000-160984200	Weak transcription	Brain Anterior Caudate	brain
28	chr3:160971000-160987400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:160971000-160989000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:160971000-160993800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:160971000-160995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:160971000-160995400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:160971200-160982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:160971200-160984400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:160971200-160988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:160971200-160995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:160971200-160996000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:160971400-160982000	Weak transcription	HepG2	liver
39	chr3:160971600-160982000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:160971800-160978600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:160971800-160980800	Weak transcription	Left Ventricle	heart
42	chr3:160971800-160993000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:160972200-160996600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:160972400-160993800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:160972600-160984400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:160972800-160995400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:160973000-160984000	Weak transcription	Stomach Mucosa	stomach
48	chr3:160973200-160980800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:160973200-160980800	Weak transcription	HSMMtube	muscle
50	chr3:160973200-160982000	Weak transcription	Aorta	Aorta

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