Variant report

Variant	rs195081
Chromosome Location	chr6:119659350-119659351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119469285..119471588-chr6:119658801..119660731,2	MCF-7	breast:
2	chr6:119658599..119660724-chr6:119666324..119670101,4	K562	blood:
3	chr6:119643922..119646907-chr6:119657887..119660580,2	K562	blood:

Variant related genes	Relation type
ENSG00000111879	Chromatin interaction

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

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

rs_ID	r²[population]
rs1005506	1.00[CEU][hapmap]
rs1076656	0.86[ASN][1000 genomes]
rs11153813	0.89[ASN][1000 genomes]
rs11962211	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1295379	0.89[ASN][1000 genomes]
rs1295386	0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1295390	0.89[ASN][1000 genomes]
rs1555684	1.00[CEU][hapmap]
rs171843	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1797064	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs195046	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs195049	0.81[EUR][1000 genomes]
rs195053	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs195054	0.89[CEU][hapmap]
rs195057	0.89[CEU][hapmap]
rs195059	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs195060	1.00[CEU][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs195062	0.90[ASN][1000 genomes]
rs195063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195065	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195067	0.88[CEU][hapmap]
rs195068	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195069	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195070	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195071	0.89[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs195072	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195073	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs195076	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195077	0.89[CEU][hapmap]
rs195078	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs195079	0.90[ASN][1000 genomes]
rs195082	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs195083	0.90[ASN][1000 genomes]
rs195084	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs195085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs195086	0.95[ASN][1000 genomes]
rs195091	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs195093	0.81[EUR][1000 genomes]
rs2299879	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4946409	0.95[ASN][1000 genomes]
rs6569059	1.00[CEU][hapmap]
rs6569062	1.00[CEU][hapmap]
rs6569074	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs6569075	0.84[ASN][1000 genomes]
rs6924723	0.93[ASN][1000 genomes]
rs6933961	1.00[CEU][hapmap]
rs7765368	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs9387646	0.86[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:90 , 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	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
4	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
5	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
7	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:119644600-119661800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:119644800-119661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:119645000-119659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
14	chr6:119645200-119661800	Weak transcription	Fetal Kidney	kidney
15	chr6:119647600-119662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:119647800-119661400	Weak transcription	Spleen	Spleen
18	chr6:119648200-119661400	Weak transcription	Lung	lung
19	chr6:119648200-119668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:119648200-119668000	Weak transcription	Esophagus	oesophagus
21	chr6:119648600-119661000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:119649600-119659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:119651000-119661600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:119651000-119662400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:119651000-119667400	Weak transcription	Fetal Stomach	stomach
26	chr6:119651200-119662400	Weak transcription	Placenta	Placenta
27	chr6:119651400-119661200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:119651800-119661600	Weak transcription	Fetal Intestine Large	intestine
29	chr6:119652200-119661400	Weak transcription	Right Atrium	heart
30	chr6:119652200-119667600	Weak transcription	Thymus	Thymus
31	chr6:119652200-119667600	Weak transcription	NHLF	lung
32	chr6:119653200-119660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:119653200-119660800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:119653200-119661000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:119653200-119661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:119653200-119661200	Weak transcription	Pancreas	Pancrea
37	chr6:119653200-119661400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:119653200-119661400	Weak transcription	Fetal Thymus	thymus
39	chr6:119653200-119661400	Weak transcription	Left Ventricle	heart
40	chr6:119653200-119661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:119653200-119661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:119653200-119661800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:119653200-119667600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:119653200-119667800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:119653400-119661400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:119653400-119662000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:119654200-119661600	Genic enhancers	HepG2	liver
48	chr6:119654800-119662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:119655200-119659800	Weak transcription	Fetal Intestine Small	intestine
50	chr6:119655200-119661400	Weak transcription	Dnd41	blood

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