Variant report

Variant	rs7302074
Chromosome Location	chr12:104253915-104253916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104221407..104223311-chr12:104252551..104254594,2	MCF-7	breast:
2	chr12:104252726..104255857-chr12:104256920..104259686,3	MCF-7	breast:
3	chr12:104252720..104255183-chr12:104502836..104504925,2	K562	blood:
4	chr12:104234105..104239098-chr12:104250004..104255076,13	MCF-7	breast:
5	chr12:104164135..104167659-chr12:104253252..104255970,3	MCF-7	breast:
6	chr12:104176628..104179392-chr12:104253819..104256321,2	K562	blood:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1000295	0.88[CEU][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap]
rs10507172	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs10507173	0.92[CHD][hapmap];0.88[JPT][hapmap]
rs10861124	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10861147	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs10861148	0.87[JPT][hapmap]
rs10861153	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs11111810	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111817	0.88[JPT][hapmap]
rs11111858	1.00[JPT][hapmap]
rs11111862	0.88[JPT][hapmap]
rs11111865	0.81[JPT][hapmap]
rs1165666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1165677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1165678	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1165682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1183212	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12368121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs12368164	0.81[JPT][hapmap];0.97[ASN][1000 genomes]
rs1866070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2164747	0.88[JPT][hapmap]
rs2251979	0.88[JPT][hapmap]
rs2252000	0.88[JPT][hapmap]
rs2293620	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs2293624	0.89[CHD][hapmap];0.88[JPT][hapmap]
rs2438116	0.92[JPT][hapmap]
rs2722188	1.00[CHB][hapmap]
rs3751210	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs3817602	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs3829301	0.88[JPT][hapmap]
rs4135054	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs4135068	0.83[JPT][hapmap]
rs4135079	0.93[CHD][hapmap];0.88[JPT][hapmap]
rs4135102	0.81[JPT][hapmap]
rs4135109	0.81[JPT][hapmap]
rs4135113	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs4135115	0.81[JPT][hapmap]
rs4135126	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs6539104	0.88[JPT][hapmap]
rs728166	0.88[CEU][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs7315838	0.93[ASN][1000 genomes]
rs7957397	0.91[ASN][1000 genomes]
rs7966100	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971050	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971440	0.95[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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
2	chr12:104246800-104254000	Weak transcription	Brain Anterior Caudate	brain
3	chr12:104250000-104257000	Weak transcription	Pancreas	Pancrea
4	chr12:104250000-104263800	Weak transcription	Liver	Liver
5	chr12:104250400-104254000	Weak transcription	Ovary	ovary
6	chr12:104251200-104254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:104251400-104254400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104252000-104254000	Enhancers	HSMMtube	muscle
9	chr12:104252000-104254400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:104252200-104254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104252200-104254400	Enhancers	HSMM	muscle
12	chr12:104252200-104254600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:104252200-104254800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104252200-104254800	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:104252200-104255000	Enhancers	HMEC	breast
16	chr12:104252200-104255800	Enhancers	Placenta	Placenta
17	chr12:104252400-104254000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:104252400-104254000	Enhancers	NH-A	brain
19	chr12:104252400-104254200	Enhancers	NHLF	lung
20	chr12:104252400-104254400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:104252400-104254400	Enhancers	NHDF-Ad	bronchial
22	chr12:104252400-104255000	Enhancers	Colon Smooth Muscle	Colon
23	chr12:104252600-104254000	Enhancers	Osteobl	bone
24	chr12:104252600-104254400	Enhancers	Esophagus	oesophagus
25	chr12:104252600-104254400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:104252600-104254800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:104252600-104255000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:104252800-104254400	Enhancers	Fetal Stomach	stomach
29	chr12:104253000-104254400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr12:104253200-104254200	Flanking Active TSS	Hela-S3	cervix
31	chr12:104253200-104254800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:104253400-104254200	Enhancers	Aorta	Aorta
33	chr12:104253400-104254400	Enhancers	NHEK	skin
34	chr12:104253600-104254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:104253600-104254000	Enhancers	A549	lung
36	chr12:104253600-104254200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:104253600-104261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:104253800-104254200	Enhancers	Lung	lung
39	chr12:104253800-104254800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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