Variant report

Variant	rs7643647
Chromosome Location	chr3:105424874-105424875
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:105424660-105424930	HBMEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CBLB	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1020327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1025885	1.00[AMR][1000 genomes]
rs1025886	1.00[AMR][1000 genomes]
rs1036877	1.00[AMR][1000 genomes]
rs1039545	1.00[AMR][1000 genomes]
rs10933832	1.00[AMR][1000 genomes]
rs1348348	1.00[AMR][1000 genomes]
rs1443099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1443107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503922	1.00[AMR][1000 genomes]
rs1548056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1561920	1.00[AMR][1000 genomes]
rs1822348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1838045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1963622	1.00[AMR][1000 genomes]
rs1992520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2197351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2221379	1.00[AMR][1000 genomes]
rs3862049	1.00[AMR][1000 genomes]
rs4243428	1.00[AMR][1000 genomes]
rs4282093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4894959	1.00[AMR][1000 genomes]
rs4894961	1.00[AMR][1000 genomes]
rs6437615	1.00[AMR][1000 genomes]
rs6437617	1.00[AMR][1000 genomes]
rs6437625	1.00[AMR][1000 genomes]
rs6765716	1.00[AMR][1000 genomes]
rs6768096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6804286	1.00[AMR][1000 genomes]
rs6805675	1.00[AMR][1000 genomes]
rs7622735	1.00[AMR][1000 genomes]
rs7649437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288816	1.00[AMR][1000 genomes]
rs9288819	1.00[AMR][1000 genomes]
rs9288820	1.00[AMR][1000 genomes]
rs976961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs976962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9809911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9811870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs981479	1.00[AMR][1000 genomes]
rs9830539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9831221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9833645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9838768	1.00[AMR][1000 genomes]
rs9859644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9872290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv877310	chr3:105409321-105495841	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
6	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
8	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
9	chr3:105394200-105438800	Weak transcription	NHEK	skin
10	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
11	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
12	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:105396200-105430400	Weak transcription	Fetal Brain Male	brain
16	chr3:105400000-105437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:105401000-105432200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:105401600-105433800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:105405200-105437200	Weak transcription	NHLF	lung
20	chr3:105407800-105457800	Weak transcription	HepG2	liver
21	chr3:105408400-105440400	Weak transcription	A549	lung
22	chr3:105409000-105427400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:105410800-105437600	Weak transcription	Fetal Heart	heart
25	chr3:105412000-105434000	Weak transcription	HMEC	breast
26	chr3:105412400-105437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:105412600-105437400	Weak transcription	Dnd41	blood
29	chr3:105415600-105428800	Weak transcription	GM12878-XiMat	blood
30	chr3:105415600-105438000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:105417200-105436800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:105418400-105432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:105418600-105427200	Strong transcription	Osteobl	bone
35	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:105419600-105426200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:105420200-105425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:105420400-105430600	Weak transcription	Fetal Kidney	kidney
39	chr3:105420600-105427800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:105421200-105432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:105421200-105432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:105421200-105432600	Weak transcription	Gastric	stomach
44	chr3:105421200-105433400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:105421200-105436400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:105421200-105436600	Weak transcription	Brain Germinal Matrix	brain
47	chr3:105421200-105437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:105421200-105437200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:105421200-105437200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:105421200-105437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links