Variant report

Variant	rs978814
Chromosome Location	chr6:80959912-80959913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80959739..80962315-chr6:80965772..80968765,2	K562	blood:
2	chr6:80951610..80958338-chr6:80959333..80963216,7	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080237	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]
rs10080500	0.80[AFR][1000 genomes]
rs1015158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10455370	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs10733162	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10806185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10943694	0.80[AFR][1000 genomes]
rs10943696	0.86[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10943697	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943699	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11962614	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12208016	1.00[CHB][hapmap]
rs12209988	0.80[AFR][1000 genomes]
rs12215236	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1324120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1324121	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1324122	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1324123	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1474791	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1535825	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs1984242	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2143887	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2179842	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298307	0.85[CEU][hapmap];0.95[MEX][hapmap]
rs2322631	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2322633	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs2322635	0.87[MEX][hapmap]
rs2322636	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2322748	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476826	0.87[MEX][hapmap]
rs2490224	0.95[CHB][hapmap]
rs2490230	0.95[CHB][hapmap]
rs2490232	0.95[CHB][hapmap]
rs2490239	0.87[MEX][hapmap]
rs2490251	0.87[MEX][hapmap]
rs2874829	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs3793000	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3805877	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3805885	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805911	0.87[MEX][hapmap]
rs3805913	0.87[MEX][hapmap]
rs3805920	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805922	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805925	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805926	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812121	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828753	0.87[MEX][hapmap]
rs3828754	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4437429	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]
rs4706113	0.82[CEU][hapmap];0.91[MEX][hapmap]
rs4706831	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4706834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs585142	0.83[ASN][1000 genomes]
rs627240	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs638056	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs67899433	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6907729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6910201	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916405	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6918172	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6930534	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7453746	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs7740627	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7771449	0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7775977	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs910266	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9294170	0.86[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap]
rs9294171	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9294173	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9341808	0.80[EUR][1000 genomes]
rs9341810	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9341811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343970	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9343971	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9343973	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343974	0.82[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs9343977	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs9343978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9350846	0.80[AFR][1000 genomes]
rs9350847	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs9352801	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs9352803	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9352806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352812	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352817	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359408	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9359409	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9359411	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9361584	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs9361587	0.80[AFR][1000 genomes]
rs9361599	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs942381	0.81[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs9448886	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs9448897	0.80[AFR][1000 genomes]
rs9448898	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes]
rs9448899	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9448908	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9448909	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448911	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830708	chr6:80844283-80996876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv886310	chr6:80880138-81025879	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1033452	chr6:80888667-81000213	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80914600-80980400	Weak transcription	Ovary	ovary
2	chr6:80921400-80973200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:80922200-80964200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:80924000-80968400	Weak transcription	Gastric	stomach
5	chr6:80924000-80976000	Weak transcription	HSMM	muscle
6	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
7	chr6:80939000-80974800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:80940600-80964200	Weak transcription	Liver	Liver
9	chr6:80944000-80960000	Weak transcription	Psoas Muscle	Psoas
10	chr6:80944000-80982800	Weak transcription	Pancreas	Pancrea
11	chr6:80944400-80961600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
13	chr6:80952800-80960200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:80954400-80960000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:80956600-80971000	Weak transcription	Lung	lung
16	chr6:80956800-80964200	Weak transcription	Brain Angular Gyrus	brain
17	chr6:80957600-80960400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:80957600-80964400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:80957600-80975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:80957800-80964400	Weak transcription	Brain Substantia Nigra	brain
21	chr6:80958200-80961200	Enhancers	K562	blood
22	chr6:80958800-80960600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:80958800-80968600	Weak transcription	Fetal Heart	heart
24	chr6:80959200-80960600	Enhancers	Osteobl	bone
25	chr6:80959200-80960800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:80959200-80960800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:80959200-80960800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:80959400-80960600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:80959600-80960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:80959800-80960000	Enhancers	Aorta	Aorta
31	chr6:80959800-80960200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:80959800-80960600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:80959800-80960600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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