Variant report

Variant	rs6438555
Chromosome Location	chr3:119762844-119762845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119754878..119758165-chr3:119760689..119763266,3	MCF-7	breast:
2	chr3:119761559..119763273-chr3:119812778..119815550,2	K562	blood:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1154596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1154597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11921053	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13312998	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13314595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs1579031	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16830683	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16830689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1719888	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs1719889	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1719895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1732165	0.85[ASN][1000 genomes]
rs1732169	0.85[ASN][1000 genomes]
rs1732170	0.82[CEU][hapmap]
rs182839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2037547	0.88[AMR][1000 genomes]
rs2461827	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3108749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs334533	0.82[CEU][hapmap]
rs334534	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs334535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs334536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334538	0.84[CHD][hapmap]
rs334551	0.91[ASN][1000 genomes]
rs334552	1.00[ASN][1000 genomes]
rs334554	1.00[ASN][1000 genomes]
rs334559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs334560	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs334566	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853592	0.94[ASN][1000 genomes]
rs4072520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs4438691	0.85[ASN][1000 genomes]
rs4688043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs56126162	0.83[EUR][1000 genomes]
rs58043853	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60272712	0.94[ASN][1000 genomes]
rs6438554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs66650215	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6762640	0.94[ASN][1000 genomes]
rs6769435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6770314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6771023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6774693	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6775397	0.81[EUR][1000 genomes]
rs6779828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6784239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6785050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6795874	0.92[EUR][1000 genomes]
rs6797689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6802301	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6805931	1.00[ASN][1000 genomes]
rs6807868	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7613197	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7617372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs7620750	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7624540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7628426	1.00[ASN][1000 genomes]
rs7635604	0.94[ASN][1000 genomes]
rs7636600	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7644234	0.82[CEU][hapmap]
rs7649661	0.86[EUR][1000 genomes]
rs7650554	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7652172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9289138	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs968824	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs9851174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9859778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9879992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119751800-119766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:119757000-119765000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr3:119757200-119763200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr3:119757200-119765800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:119757800-119769800	ZNF genes & repeats	Dnd41	blood
6	chr3:119758000-119763400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr3:119759400-119763000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:119759400-119786200	Weak transcription	Hela-S3	cervix
9	chr3:119759600-119763400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:119759800-119763800	Weak transcription	Fetal Lung	lung
11	chr3:119760000-119763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:119760000-119764200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:119760000-119770200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:119760000-119771200	Weak transcription	NHDF-Ad	bronchial
15	chr3:119760200-119763000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:119760200-119763000	Weak transcription	Fetal Intestine Large	intestine
17	chr3:119760200-119763000	Weak transcription	Lung	lung
18	chr3:119760200-119763600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:119760200-119764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:119760200-119764200	Weak transcription	Aorta	Aorta
21	chr3:119760200-119766400	Weak transcription	Colonic Mucosa	Colon
22	chr3:119760200-119767400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:119760200-119767400	Weak transcription	Right Ventricle	heart
24	chr3:119760200-119768200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:119760200-119768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:119760200-119768800	Weak transcription	Ovary	ovary
27	chr3:119760200-119779400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:119760200-119805400	Weak transcription	HMEC	breast
29	chr3:119760400-119764400	Weak transcription	HepG2	liver
30	chr3:119760800-119767400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:119761200-119763000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:119761200-119769200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:119761400-119764000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:119761400-119765400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:119761400-119768000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:119761600-119768200	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:119762000-119763000	Weak transcription	Brain Substantia Nigra	brain
38	chr3:119762200-119763200	Enhancers	Brain Anterior Caudate	brain
39	chr3:119762200-119764800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
40	chr3:119762200-119765000	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr3:119762400-119763000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:119762400-119763000	Weak transcription	Gastric	stomach
43	chr3:119762400-119764000	Strong transcription	NHEK	skin
44	chr3:119762400-119764600	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr3:119762400-119764800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:119762600-119763000	Weak transcription	Pancreas	Pancrea
47	chr3:119762800-119763200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:119762800-119763200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr3:119762800-119763200	ZNF genes & repeats	Thymus	Thymus
50	chr3:119762800-119763400	Enhancers	Brain Angular Gyrus	brain

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