Variant report

Variant	rs2474912
Chromosome Location	chr6:71544824-71544825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1024211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10428835	0.80[AMR][1000 genomes]
rs10455229	0.86[AMR][1000 genomes]
rs10455707	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10455708	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10498874	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10498875	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10498876	0.80[AMR][1000 genomes]
rs10738047	0.80[AMR][1000 genomes]
rs10755541	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10755543	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10806635	0.82[AMR][1000 genomes]
rs10806636	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1084381	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1084384	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1084387	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1084388	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1084389	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1084390	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10945239	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10945243	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10945244	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10945245	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10945246	0.80[AMR][1000 genomes]
rs10945248	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10945254	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10945261	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10945262	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10945263	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12191208	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12195774	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12202843	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12204418	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12207501	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12208797	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12209357	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12209431	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12211207	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12212629	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12215187	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12215467	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12215757	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12215835	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12215915	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13207111	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1333964	0.81[AMR][1000 genomes]
rs1333967	0.82[AMR][1000 genomes]
rs1541127	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1577109	0.82[AMR][1000 genomes]
rs1577110	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17694765	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2249159	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2347431	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2347432	0.80[AMR][1000 genomes]
rs2347433	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2460687	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2460689	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2474913	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2474917	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2504756	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2504757	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28488598	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35251287	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4282370	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4404740	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4410689	0.86[AMR][1000 genomes]
rs4580826	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4616957	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4706461	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4706462	0.81[AMR][1000 genomes]
rs4706463	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4706464	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4707847	0.80[AMR][1000 genomes]
rs4707851	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4707855	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4707856	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4707857	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61051169	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62419706	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6455380	0.80[AMR][1000 genomes]
rs7760267	0.80[AMR][1000 genomes]
rs7771674	0.80[AMR][1000 genomes]
rs7775813	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs781964	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781965	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs781966	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781967	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781968	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781971	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781974	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs781975	0.80[EUR][1000 genomes]
rs781977	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781978	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs781979	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs781981	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs781982	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs781983	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs781984	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781985	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs781989	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781991	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781992	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs782002	0.83[EUR][1000 genomes]

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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71474600-71568800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:71492400-71563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:71506800-71570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:71511600-71554600	Weak transcription	Dnd41	blood
5	chr6:71514800-71548400	Weak transcription	Ovary	ovary
6	chr6:71516200-71546200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:71516400-71562200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:71516400-71567600	Weak transcription	Pancreas	Pancrea
9	chr6:71516600-71567600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:71518400-71552400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:71522000-71558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:71524600-71548200	Weak transcription	Psoas Muscle	Psoas
13	chr6:71531200-71571000	Weak transcription	Stomach Mucosa	stomach
14	chr6:71532400-71557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:71533000-71567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:71533200-71545600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:71533200-71547600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:71533200-71548000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:71533200-71557000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:71534000-71550200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:71534000-71563200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:71534800-71546800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:71534800-71567600	Weak transcription	Aorta	Aorta
24	chr6:71535600-71548200	Weak transcription	Left Ventricle	heart
25	chr6:71537200-71556000	Weak transcription	Right Ventricle	heart
26	chr6:71537600-71574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:71538800-71553200	Weak transcription	Gastric	stomach
28	chr6:71538800-71555400	Weak transcription	Esophagus	oesophagus
29	chr6:71539200-71556000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:71539800-71548200	Weak transcription	Fetal Intestine Large	intestine
31	chr6:71541400-71546400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:71543800-71562200	Weak transcription	Fetal Thymus	thymus
33	chr6:71544000-71545800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:71544400-71562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:71544400-71562200	Weak transcription	Adipose Nuclei	Adipose
36	chr6:71544400-71567200	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:71544400-71568800	Weak transcription	HSMMtube	muscle
38	chr6:71544400-71569800	Weak transcription	Placenta	Placenta
39	chr6:71544600-71548000	Weak transcription	Liver	Liver
40	chr6:71544600-71566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:71544800-71548400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:71544800-71548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:71544800-71548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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