Variant report

Variant	rs4245508
Chromosome Location	chr6:121601627-121601628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10499102	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10499103	0.88[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10499105	0.92[ASW][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs10499107	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10499108	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10499110	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs11964400	0.83[EUR][1000 genomes]
rs11968501	0.83[EUR][1000 genomes]
rs12524471	0.82[EUR][1000 genomes]
rs12525057	0.83[EUR][1000 genomes]
rs12526158	0.82[EUR][1000 genomes]
rs12526903	0.83[EUR][1000 genomes]
rs12527618	0.83[EUR][1000 genomes]
rs12527748	0.82[EUR][1000 genomes]
rs12530424	0.83[EUR][1000 genomes]
rs1273728	0.87[MEX][hapmap]
rs1273739	0.92[ASW][hapmap]
rs1273746	0.87[MEX][hapmap]
rs1273758	0.84[ASW][hapmap]
rs1273760	0.83[EUR][1000 genomes]
rs17052877	0.81[JPT][hapmap]
rs17083156	0.81[JPT][hapmap]
rs17083168	0.81[JPT][hapmap]
rs17083211	0.88[CHB][hapmap]
rs17083268	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083302	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083356	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083358	0.89[CHB][hapmap];0.88[ASN][1000 genomes]
rs17083360	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083375	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083385	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083387	0.83[EUR][1000 genomes]
rs17083389	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083393	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs17083397	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs17083405	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083417	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083420	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083421	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs17083432	0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs17083435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389414	0.84[ASW][hapmap]
rs34349558	0.83[EUR][1000 genomes]
rs3923664	0.88[ASN][1000 genomes]
rs4144169	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4441982	0.86[ASN][1000 genomes]
rs4458731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4466276	0.84[ASW][hapmap]
rs4469335	0.84[ASN][1000 genomes]
rs4483022	0.83[EUR][1000 genomes]
rs4487619	0.86[ASN][1000 genomes]
rs4527742	0.92[ASW][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4543411	0.83[EUR][1000 genomes]
rs4580906	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4585597	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4585603	0.92[ASW][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4945682	0.82[EUR][1000 genomes]
rs4945683	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4946540	0.91[TSI][hapmap]
rs4946549	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4946551	0.83[EUR][1000 genomes]
rs4946555	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4946556	0.88[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4946557	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4946558	0.84[ASN][1000 genomes]
rs4946560	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4946561	0.88[ASN][1000 genomes]
rs4946564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946566	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59480217	0.83[EUR][1000 genomes]
rs59945135	0.84[ASN][1000 genomes]
rs61550917	0.88[ASN][1000 genomes]
rs6569179	0.92[ASW][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap]
rs6569184	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6569194	0.92[ASW][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs6907975	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912500	0.83[EUR][1000 genomes]
rs6916773	0.82[EUR][1000 genomes]
rs6920459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6933263	0.83[EUR][1000 genomes]
rs6933489	0.92[ASW][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs6941332	0.83[EUR][1000 genomes]
rs73524557	0.83[EUR][1000 genomes]
rs73526655	0.83[EUR][1000 genomes]
rs73526665	0.83[EUR][1000 genomes]
rs7452947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs7762181	0.83[EUR][1000 genomes]
rs7762977	0.81[EUR][1000 genomes]
rs811484	0.92[ASW][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap]
rs813068	0.84[ASW][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap]
rs9375015	0.92[ASW][hapmap]
rs9375017	0.83[EUR][1000 genomes]
rs9387932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9490138	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1017944	chr6:121600538-121644362	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121575000-121606400	Weak transcription	NH-A	brain
2	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
3	chr6:121585400-121614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:121585600-121625000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:121586600-121613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:121588200-121616800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:121588600-121612000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:121588600-121617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:121588800-121604000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
13	chr6:121589000-121602600	Weak transcription	Liver	Liver
14	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
15	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:121589000-121637600	Weak transcription	Ovary	ovary
17	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:121589200-121605200	Weak transcription	Dnd41	blood
19	chr6:121589200-121622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:121589200-121630000	Weak transcription	Fetal Intestine Large	intestine
21	chr6:121589200-121631800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
23	chr6:121589400-121612400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:121589600-121615600	Weak transcription	Fetal Brain Female	brain
25	chr6:121590200-121630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:121593800-121605800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:121594000-121606200	Weak transcription	NHLF	lung
28	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:121594600-121622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:121595400-121616600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:121596000-121605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:121596600-121605200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:121597200-121603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:121597600-121617200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:121598000-121622400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:121598200-121612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:121599400-121612800	Weak transcription	Brain Substantia Nigra	brain
38	chr6:121600400-121603800	Weak transcription	Primary B cells from cord blood	blood
39	chr6:121600600-121604000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:121601600-121635200	Weak transcription	Rectal Mucosa Donor 29	rectum

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