Variant report

Variant	rs1000295
Chromosome Location	chr12:104303246-104303247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
3	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
4	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10745982	0.91[JPT][hapmap]
rs10745987	0.90[JPT][hapmap]
rs10745988	0.91[JPT][hapmap]
rs10778293	0.95[JPT][hapmap]
rs10778298	0.91[JPT][hapmap]
rs10778300	0.91[JPT][hapmap]
rs10778301	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs10861128	1.00[JPT][hapmap]
rs10861129	0.95[JPT][hapmap]
rs10861134	0.91[JPT][hapmap]
rs10861137	0.91[JPT][hapmap]
rs10861138	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs10861139	0.91[JPT][hapmap]
rs10861141	0.99[ASN][1000 genomes]
rs11111822	0.91[JPT][hapmap]
rs11111832	0.98[ASN][1000 genomes]
rs1165596	0.91[JPT][hapmap]
rs1165598	0.95[JPT][hapmap]
rs1185985	0.91[JPT][hapmap]
rs1595338	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1595339	0.91[JPT][hapmap]
rs2118313	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2196614	0.91[JPT][hapmap]
rs2248382	0.91[JPT][hapmap]
rs2374351	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs2374353	0.90[JPT][hapmap]
rs2576957	0.90[JPT][hapmap]
rs2576961	0.91[JPT][hapmap]
rs2576962	0.91[JPT][hapmap]
rs2576963	0.91[JPT][hapmap]
rs2576970	0.91[JPT][hapmap]
rs2583236	0.89[JPT][hapmap]
rs2583241	0.95[JPT][hapmap]
rs2583242	0.85[JPT][hapmap]
rs2583245	0.91[JPT][hapmap]
rs2583246	0.91[JPT][hapmap]
rs2583247	0.91[JPT][hapmap]
rs2583248	0.90[JPT][hapmap]
rs2888809	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs2888810	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs3850016	0.91[JPT][hapmap]
rs3850017	0.91[JPT][hapmap]
rs3850019	0.89[JPT][hapmap]
rs4491322	0.91[JPT][hapmap]
rs4556622	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs4964118	0.91[JPT][hapmap]
rs7136272	0.90[JPT][hapmap]
rs7136297	0.91[JPT][hapmap]
rs7138145	0.91[JPT][hapmap]
rs7138345	0.91[JPT][hapmap]
rs728165	0.91[JPT][hapmap]
rs728166	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7295268	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7295499	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7298655	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7299349	0.83[JPT][hapmap]
rs7301439	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7302074	0.88[CEU][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap]
rs7310988	0.91[JPT][hapmap]
rs7311473	0.94[JPT][hapmap]
rs7314790	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7964654	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs878125	0.91[JPT][hapmap]
rs9943761	0.91[JPT][hapmap]
rs9943762	0.91[JPT][hapmap]
rs9943844	0.86[JPT][hapmap]
rs9988931	0.91[JPT][hapmap]

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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
3	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:104301400-104304200	Enhancers	HMEC	breast
6	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
8	chr12:104302000-104303600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104302200-104303800	Enhancers	NHDF-Ad	bronchial
10	chr12:104302200-104304200	Enhancers	HSMM	muscle
11	chr12:104302200-104304200	Enhancers	Osteobl	bone
12	chr12:104302200-104304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:104302400-104304000	Weak transcription	Thymus	Thymus
14	chr12:104302400-104304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:104302400-104304200	Enhancers	NHEK	skin
16	chr12:104302600-104303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:104302600-104304000	Enhancers	NH-A	brain
18	chr12:104302800-104303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104302800-104304000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:104302800-104306000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:104303000-104303400	Flanking Active TSS	Fetal Heart	heart
22	chr12:104303000-104304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:104303000-104304000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:104303000-104304000	Weak transcription	NHLF	lung
25	chr12:104303000-104305600	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:104303200-104303600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104303200-104303600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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