Variant report

Variant	rs180963
Chromosome Location	chr6:101127213-101127214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs1006398	0.80[ASN][1000 genomes]
rs1039030	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1039031	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1039032	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10457077	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10457844	0.84[EUR][1000 genomes]
rs10872622	0.97[EUR][1000 genomes]
rs10872628	0.84[EUR][1000 genomes]
rs10872634	0.84[EUR][1000 genomes]
rs1099916	0.80[EUR][1000 genomes]
rs11155596	0.90[EUR][1000 genomes]
rs11155606	0.90[EUR][1000 genomes]
rs11155610	0.88[EUR][1000 genomes]
rs11155613	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155618	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11155623	0.82[EUR][1000 genomes]
rs11155635	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11155636	0.83[EUR][1000 genomes]
rs11155637	0.83[EUR][1000 genomes]
rs11155638	0.83[EUR][1000 genomes]
rs11155653	0.82[EUR][1000 genomes]
rs11155659	0.82[EUR][1000 genomes]
rs11155666	0.82[EUR][1000 genomes]
rs11752659	0.81[EUR][1000 genomes]
rs11967951	0.83[EUR][1000 genomes]
rs12193960	0.90[EUR][1000 genomes]
rs12194255	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195369	0.83[EUR][1000 genomes]
rs12199888	0.90[EUR][1000 genomes]
rs12201852	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12206838	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12207086	0.90[EUR][1000 genomes]
rs12209777	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209887	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12210255	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210550	0.82[EUR][1000 genomes]
rs12212435	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12212736	0.90[EUR][1000 genomes]
rs12213201	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12214151	0.90[EUR][1000 genomes]
rs12215909	0.86[EUR][1000 genomes]
rs12216199	0.90[EUR][1000 genomes]
rs12216304	0.88[EUR][1000 genomes]
rs12528607	0.81[EUR][1000 genomes]
rs12664626	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13196803	0.84[EUR][1000 genomes]
rs13208757	0.94[EUR][1000 genomes]
rs1336242	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1336244	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1336245	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414734	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151572	0.92[EUR][1000 genomes]
rs151573	0.91[EUR][1000 genomes]
rs151637	0.92[EUR][1000 genomes]
rs151638	0.98[EUR][1000 genomes]
rs151640	0.99[EUR][1000 genomes]
rs183566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036052	0.90[EUR][1000 genomes]
rs2132168	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2132169	0.84[EUR][1000 genomes]
rs239189	0.92[EUR][1000 genomes]
rs239190	0.91[EUR][1000 genomes]
rs239196	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs239197	0.92[EUR][1000 genomes]
rs239198	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239201	0.92[EUR][1000 genomes]
rs239203	0.92[EUR][1000 genomes]
rs239204	0.92[EUR][1000 genomes]
rs239206	0.91[EUR][1000 genomes]
rs239207	0.90[EUR][1000 genomes]
rs239208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs239209	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239211	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs239215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239216	0.90[EUR][1000 genomes]
rs239217	0.90[EUR][1000 genomes]
rs239218	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs239219	0.92[EUR][1000 genomes]
rs239221	0.92[EUR][1000 genomes]
rs239222	0.92[EUR][1000 genomes]
rs239223	0.92[EUR][1000 genomes]
rs239226	0.92[EUR][1000 genomes]
rs239227	0.92[EUR][1000 genomes]
rs239229	0.92[EUR][1000 genomes]
rs239230	0.92[EUR][1000 genomes]
rs239231	0.92[EUR][1000 genomes]
rs239232	0.92[EUR][1000 genomes]
rs239234	0.99[EUR][1000 genomes]
rs239235	0.91[EUR][1000 genomes]
rs239236	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs239237	0.91[EUR][1000 genomes]
rs239238	0.91[EUR][1000 genomes]
rs239239	0.91[EUR][1000 genomes]
rs239242	0.91[EUR][1000 genomes]
rs239245	0.91[EUR][1000 genomes]
rs239246	0.91[EUR][1000 genomes]
rs239247	0.91[EUR][1000 genomes]
rs239248	0.90[EUR][1000 genomes]
rs239249	0.91[EUR][1000 genomes]
rs240110	0.88[EUR][1000 genomes]
rs240111	0.95[EUR][1000 genomes]
rs240112	0.87[EUR][1000 genomes]
rs240141	0.88[EUR][1000 genomes]
rs240143	0.91[EUR][1000 genomes]
rs240145	0.91[EUR][1000 genomes]
rs240146	0.91[EUR][1000 genomes]
rs240147	0.88[EUR][1000 genomes]
rs240148	0.88[EUR][1000 genomes]
rs240149	0.87[EUR][1000 genomes]
rs240151	0.96[EUR][1000 genomes]
rs240152	0.96[EUR][1000 genomes]
rs240153	0.88[EUR][1000 genomes]
rs240154	0.91[EUR][1000 genomes]
rs240156	0.88[EUR][1000 genomes]
rs240776	0.80[ASN][1000 genomes]
rs35168784	0.84[EUR][1000 genomes]
rs35967345	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs369125	0.90[EUR][1000 genomes]
rs41288423	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs454747	0.84[EUR][1000 genomes]
rs4571568	0.82[EUR][1000 genomes]
rs4840147	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840148	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840150	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4840151	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840153	0.83[EUR][1000 genomes]
rs58266877	0.90[EUR][1000 genomes]
rs62422070	0.81[EUR][1000 genomes]
rs6570922	0.84[EUR][1000 genomes]
rs6570930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6570970	0.83[EUR][1000 genomes]
rs6903665	0.99[ASN][1000 genomes]
rs6904959	0.95[EUR][1000 genomes]
rs6905221	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6907240	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6907444	0.97[EUR][1000 genomes]
rs6909880	0.84[EUR][1000 genomes]
rs6910738	0.80[ASN][1000 genomes]
rs6916468	0.97[EUR][1000 genomes]
rs6919283	0.83[EUR][1000 genomes]
rs6922219	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6925065	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6925823	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6925840	0.82[EUR][1000 genomes]
rs6927598	0.83[EUR][1000 genomes]
rs6928418	0.96[ASN][1000 genomes]
rs6938440	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs705586	0.80[EUR][1000 genomes]
rs723742	0.83[EUR][1000 genomes]
rs723743	0.83[EUR][1000 genomes]
rs7451736	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7742011	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746947	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7747014	0.83[EUR][1000 genomes]
rs7748644	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322173	0.84[EUR][1000 genomes]
rs9322216	0.82[EUR][1000 genomes]
rs9373590	0.83[EUR][1000 genomes]
rs9377234	0.80[EUR][1000 genomes]
rs9377235	0.80[EUR][1000 genomes]
rs9386233	0.99[ASN][1000 genomes]
rs9390693	0.83[EUR][1000 genomes]
rs9399652	0.80[EUR][1000 genomes]
rs9399688	0.82[EUR][1000 genomes]
rs9403997	0.99[ASN][1000 genomes]
rs9404016	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9404045	0.83[EUR][1000 genomes]
rs9498252	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
2	nsv1028016	chr6:101001055-101158822	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886449	chr6:101018032-101147095	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886450	chr6:101018032-101168137	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886451	chr6:101018032-101172328	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv886452	chr6:101018032-101192051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv886453	chr6:101018032-101203051	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv463988	chr6:101036713-101158950	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv604266	chr6:101036713-101158950	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv886455	chr6:101049108-101203051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv604270	chr6:101058886-101196080	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv604271	chr6:101072307-101158950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv463991	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv604272	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv463992	chr6:101072307-101197953	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv604273	chr6:101072307-101197953	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv604274	chr6:101078718-101196080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1032826	chr6:101091434-101147095	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1028583	chr6:101091434-101152631	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1015465	chr6:101091434-101157493	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1031817	chr6:101091995-101157493	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv521897	chr6:101123503-101158950	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101071600-101127800	Weak transcription	Hela-S3	cervix
2	chr6:101093000-101145800	Weak transcription	Fetal Thymus	thymus
3	chr6:101100400-101131400	Weak transcription	Liver	Liver
4	chr6:101100600-101149800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:101100800-101129200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:101100800-101147600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:101100800-101164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:101103800-101129400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:101103800-101129600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:101103800-101143600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:101104000-101135000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:101110000-101147600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:101110400-101146800	Weak transcription	Primary T cells from cord blood	blood
14	chr6:101110800-101129800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:101111200-101168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:101111600-101130200	Weak transcription	HUVEC	blood vessel
17	chr6:101111600-101168000	Weak transcription	NHDF-Ad	bronchial
18	chr6:101111800-101131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:101111800-101139800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:101111800-101147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:101111800-101147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:101111800-101168200	Weak transcription	Osteobl	bone
23	chr6:101112000-101161200	Weak transcription	HMEC	breast
24	chr6:101118600-101134000	Weak transcription	Psoas Muscle	Psoas
25	chr6:101118600-101168000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:101118800-101147400	Weak transcription	GM12878-XiMat	blood
27	chr6:101119000-101147000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:101119200-101165600	Weak transcription	NH-A	brain
29	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
30	chr6:101119800-101133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:101119800-101146800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:101119800-101146800	Weak transcription	Primary B cells from cord blood	blood
33	chr6:101120000-101146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:101120000-101147000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:101120000-101148000	Weak transcription	HSMMtube	muscle
36	chr6:101121000-101137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:101122000-101132400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:101122000-101148000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:101122400-101129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:101124200-101127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:101124600-101146800	Weak transcription	Dnd41	blood
42	chr6:101124800-101147400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:101126200-101147000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:101126400-101132200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:101126800-101128800	Strong transcription	HSMM	muscle

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