Variant report

Variant	rs195083
Chromosome Location	chr6:119662754-119662755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
2	chr6:119638103..119640641-chr6:119661464..119664087,2	K562	blood:
3	chr6:119650127..119652249-chr6:119661501..119664214,3	K562	blood:
4	chr6:119638426..119640641-chr6:119661356..119664087,2	K562	blood:
5	chr6:119655373..119657912-chr6:119662239..119664036,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1104741	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11153798	0.80[EUR][1000 genomes]
rs11153802	0.88[EUR][1000 genomes]
rs11153813	0.80[ASN][1000 genomes]
rs11962211	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12207164	0.80[EUR][1000 genomes]
rs12211868	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1295379	0.80[ASN][1000 genomes]
rs1295386	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1295390	0.80[ASN][1000 genomes]
rs1298630	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1342316	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1408492	0.88[EUR][1000 genomes]
rs1408493	0.86[EUR][1000 genomes]
rs1797064	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs195046	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195051	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195062	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195063	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs195071	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195076	0.90[ASN][1000 genomes]
rs195078	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195079	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195081	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs195085	0.85[ASN][1000 genomes]
rs195086	0.86[ASN][1000 genomes]
rs195088	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195091	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180040	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2299879	0.88[CHB][hapmap]
rs2299881	0.85[ASN][1000 genomes]
rs4945633	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946409	0.85[ASN][1000 genomes]
rs6569063	0.87[ASN][1000 genomes]
rs6569074	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569075	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6921356	0.86[ASN][1000 genomes]
rs6924723	0.84[ASN][1000 genomes]
rs7357048	0.80[EUR][1000 genomes]
rs7765368	0.81[ASN][1000 genomes]
rs7773367	0.86[ASN][1000 genomes]
rs9320684	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372527	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9374791	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9374801	0.80[JPT][hapmap]
rs9398510	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489628	0.80[EUR][1000 genomes]
rs9489633	0.86[EUR][1000 genomes]
rs9489654	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:119627800-119667000	Weak transcription	Gastric	stomach
3	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
4	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
8	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:119648200-119668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:119648200-119668000	Weak transcription	Esophagus	oesophagus
11	chr6:119651000-119667400	Weak transcription	Fetal Stomach	stomach
12	chr6:119652200-119667600	Weak transcription	Thymus	Thymus
13	chr6:119652200-119667600	Weak transcription	NHLF	lung
14	chr6:119653200-119667600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:119653200-119667800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:119657800-119667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:119658000-119667400	Weak transcription	NHEK	skin
18	chr6:119658400-119665000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:119658600-119665200	Genic enhancers	Liver	Liver
20	chr6:119658600-119665800	Genic enhancers	Primary hematopoietic stem cells	blood
21	chr6:119658800-119667200	Weak transcription	Psoas Muscle	Psoas
22	chr6:119658800-119667800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:119659800-119664000	Enhancers	Small Intestine	intestine
24	chr6:119660800-119667600	Weak transcription	Fetal Brain Male	brain
25	chr6:119661200-119662800	Enhancers	Primary B cells from cord blood	blood
26	chr6:119661200-119662800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:119661200-119668000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:119661400-119662800	Enhancers	Brain Angular Gyrus	brain
29	chr6:119661400-119662800	Enhancers	Fetal Lung	lung
30	chr6:119661400-119662800	Strong transcription	Fetal Thymus	thymus
31	chr6:119661400-119662800	Enhancers	Spleen	Spleen
32	chr6:119661400-119662800	Genic enhancers	Dnd41	blood
33	chr6:119661400-119663000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:119661400-119663000	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:119661400-119663200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:119661400-119663800	Transcr. at gene 5' and 3'	K562	blood
37	chr6:119661400-119664000	Enhancers	Fetal Heart	heart
38	chr6:119661400-119668000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:119661600-119663000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:119661600-119663200	Genic enhancers	Fetal Intestine Large	intestine
41	chr6:119661600-119664200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:119661600-119667800	Weak transcription	Primary T cells from cord blood	blood
43	chr6:119661600-119667800	Transcr. at gene 5' and 3'	HepG2	liver
44	chr6:119661800-119662800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:119661800-119662800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:119661800-119662800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:119661800-119663000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:119661800-119663000	Enhancers	Stomach Mucosa	stomach
49	chr6:119661800-119663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:119661800-119665600	Weak transcription	Lung	lung

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