Variant report

Variant	rs9320659
Chromosome Location	chr6:118953755-118953756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118951505..118954170-chr6:118971073..118972988,2	K562	blood:
2	chr6:118949052..118950872-chr6:118952569..118955401,2	K562	blood:
3	chr6:118953209..118955124-chr6:118961849..118964677,2	K562	blood:
4	chr6:118953624..118955597-chr6:118963177..118965168,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10080340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10214801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10457339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457346	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11153749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11153762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12190964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191005	0.83[AMR][1000 genomes]
rs12191529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12192532	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12197348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12199189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12199190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12200660	0.83[AMR][1000 genomes]
rs12201928	0.85[EUR][1000 genomes]
rs12202466	0.83[AMR][1000 genomes]
rs12202932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12204374	0.83[AMR][1000 genomes]
rs12205793	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12206369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12206459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12207554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12209500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12209566	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12211934	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12213494	0.85[EUR][1000 genomes]
rs12215364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60500545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934770	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6939873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7743702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759420	1.00[AMR][1000 genomes]
rs7764014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9320657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9320661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9320662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9372510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9387582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9398488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481810	0.83[AFR][1000 genomes]
rs9481812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489398	0.96[AFR][1000 genomes]
rs9489402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489434	1.00[AFR][1000 genomes]
rs9489435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489495	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489496	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489501	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489505	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118912200-118966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:118927000-118965000	Weak transcription	NHLF	lung
3	chr6:118931600-118970400	Weak transcription	NH-A	brain
4	chr6:118940200-118966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:118940400-118960600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:118940600-118955200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:118940800-118954800	Weak transcription	Lung	lung
8	chr6:118940800-118955000	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:118940800-118960200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:118942600-118957600	Weak transcription	Pancreas	Pancrea
11	chr6:118943800-118954800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:118944400-118961600	Weak transcription	Ovary	ovary
14	chr6:118945800-118955800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:118946200-118955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:118947200-118953800	Strong transcription	Primary B cells from cord blood	blood
17	chr6:118947600-118953800	Strong transcription	Primary T cells from cord blood	blood
18	chr6:118948000-118954000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:118948000-118954200	Strong transcription	Fetal Thymus	thymus
20	chr6:118948200-118956200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:118948600-118954200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:118948800-118959600	Weak transcription	Brain Anterior Caudate	brain
23	chr6:118948800-118959600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:118949000-118955400	Weak transcription	Fetal Intestine Large	intestine
25	chr6:118949000-118959200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:118949200-118958600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:118949200-118960200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:118949400-118955200	Weak transcription	Brain Germinal Matrix	brain
29	chr6:118949400-118960200	Weak transcription	GM12878-XiMat	blood
30	chr6:118949600-118959400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:118950200-118954200	Strong transcription	Dnd41	blood
32	chr6:118950400-118953800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:118950400-118970400	Weak transcription	Fetal Kidney	kidney
34	chr6:118950600-118953800	Strong transcription	Fetal Muscle Leg	muscle
35	chr6:118951400-118960400	Weak transcription	Brain Angular Gyrus	brain
36	chr6:118951600-118954800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:118951600-118954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:118951600-118961800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:118951800-118954800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:118951800-118954800	Weak transcription	Fetal Brain Female	brain
41	chr6:118951800-118955000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:118951800-118960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:118952000-118956600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:118952000-118959600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:118952000-118959600	Weak transcription	Liver	Liver
46	chr6:118952000-118961600	Weak transcription	Psoas Muscle	Psoas
47	chr6:118952000-118965200	Weak transcription	Aorta	Aorta
48	chr6:118952200-118953800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:118952200-118954800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:118952200-118957200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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