Variant report

Variant	rs12368121
Chromosome Location	chr12:104251172-104251173
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104234105..104239098-chr12:104250004..104255076,13	MCF-7	breast:
2	chr12:104247941..104249530-chr12:104249727..104251243,2	K562	blood:
3	chr12:104250532..104253421-chr12:104255015..104257063,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10507172	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs10507173	0.92[CHD][hapmap];0.82[JPT][hapmap]
rs10861124	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861138	0.85[CEU][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs10861147	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs10861148	0.81[JPT][hapmap]
rs10861153	0.89[CHD][hapmap]
rs11111810	0.95[ASN][1000 genomes]
rs11111817	0.82[JPT][hapmap]
rs11111822	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs11111828	0.82[EUR][1000 genomes]
rs11111858	1.00[JPT][hapmap]
rs11111862	0.82[JPT][hapmap]
rs1165666	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1165677	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1165678	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs1165682	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1183212	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs12368164	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866070	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2118313	0.85[CEU][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2164747	0.82[JPT][hapmap]
rs2251979	0.82[JPT][hapmap]
rs2252000	0.82[JPT][hapmap]
rs2293620	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs2293624	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs2438116	1.00[JPT][hapmap]
rs2722188	1.00[CHB][hapmap]
rs3751210	0.84[CHD][hapmap]
rs3817602	0.89[CHD][hapmap]
rs3829301	0.82[JPT][hapmap]
rs4135054	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs4135068	0.83[JPT][hapmap]
rs4135079	0.93[CHD][hapmap];0.82[JPT][hapmap]
rs4135113	0.89[CHD][hapmap]
rs4135126	0.89[CHD][hapmap]
rs56205268	0.83[EUR][1000 genomes]
rs6539104	0.82[JPT][hapmap]
rs7302074	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs7312936	0.80[EUR][1000 genomes]
rs7315838	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73175882	0.81[EUR][1000 genomes]
rs7957397	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966100	0.95[ASN][1000 genomes]
rs7967862	0.82[EUR][1000 genomes]
rs7971050	0.95[ASN][1000 genomes]
rs7971440	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
2	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:104236000-104253600	Weak transcription	Gastric	stomach
4	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:104243800-104251400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:104245200-104252000	Enhancers	Stomach Smooth Muscle	stomach
7	chr12:104246400-104252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:104246600-104252400	Weak transcription	NHEK	skin
9	chr12:104246600-104253200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104246800-104251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104246800-104252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104246800-104254000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:104247800-104252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104248800-104252800	Weak transcription	Fetal Stomach	stomach
15	chr12:104249600-104252000	Weak transcription	HSMMtube	muscle
16	chr12:104249600-104252600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:104249800-104252200	Weak transcription	HMEC	breast
18	chr12:104249800-104252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:104250000-104252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:104250000-104257000	Weak transcription	Pancreas	Pancrea
21	chr12:104250000-104263800	Weak transcription	Liver	Liver
22	chr12:104250200-104251200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104250200-104252200	Weak transcription	HSMM	muscle
24	chr12:104250200-104252400	Weak transcription	NH-A	brain
25	chr12:104250400-104252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:104250400-104254000	Weak transcription	Ovary	ovary
27	chr12:104250600-104252200	Weak transcription	Placenta	Placenta
28	chr12:104250600-104252600	Weak transcription	Osteobl	bone
29	chr12:104250800-104251400	Flanking Active TSS	HepG2	liver
30	chr12:104250800-104251600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:104251000-104251200	Enhancers	Fetal Intestine Small	intestine
32	chr12:104251000-104253400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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