Variant report

Variant	rs7628146
Chromosome Location	chr3:135998453-135998454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135978505..135981736-chr3:135997267..135999290,3	K562	blood:
2	chr3:135914067..135916251-chr3:135996323..135999070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114054	Chromatin interaction
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1153871	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12330635	0.88[ASN][1000 genomes]
rs1278719	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1279425	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1279840	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1291921	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1618069	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1711171	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755636	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4678428	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483465	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523118	0.82[EUR][1000 genomes]
rs534944	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs548288	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs576771	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs606725	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs632016	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs650505	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs665200	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667920	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6770476	0.80[ASN][1000 genomes]
rs684773	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs695983	0.85[ASN][1000 genomes]
rs696516	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72493178	0.88[ASN][1000 genomes]
rs73222262	0.87[ASN][1000 genomes]
rs7653249	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs895893	0.83[AFR][1000 genomes]
rs9832813	0.80[ASN][1000 genomes]
rs9848883	0.88[ASN][1000 genomes]
rs9856769	0.88[ASN][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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970600-135998800	Weak transcription	Fetal Brain Male	brain
2	chr3:135970600-135999200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:135970600-135999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:135976200-135999400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:135976200-136012400	Weak transcription	NHLF	lung
7	chr3:135976200-136016400	Weak transcription	Colonic Mucosa	Colon
8	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:135980800-135999200	Weak transcription	Small Intestine	intestine
10	chr3:135981000-135998600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:135981200-135999200	Weak transcription	NHDF-Ad	bronchial
12	chr3:135981200-136052000	Weak transcription	NH-A	brain
13	chr3:135981600-135998800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:135981600-136020400	Weak transcription	HUVEC	blood vessel
15	chr3:135981800-135999600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:135982600-135999000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:135982600-136004000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:135985600-135999400	Weak transcription	Osteobl	bone
19	chr3:135988000-135999200	Weak transcription	Thymus	Thymus
20	chr3:135988600-135999000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:135993600-135998800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:135995000-135998600	Strong transcription	Liver	Liver
23	chr3:135995000-136000800	ZNF genes & repeats	Fetal Brain Female	brain
24	chr3:135995000-136001200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:135995200-135999200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:135995200-136001200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr3:135995200-136002200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:135995400-135999000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr3:135995600-135999800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr3:135995800-135999200	Weak transcription	Brain Angular Gyrus	brain
31	chr3:135995800-136001400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:135996000-135999200	Weak transcription	Ovary	ovary
33	chr3:135996200-135999200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr3:135996600-135998800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:135996600-135999600	Weak transcription	HepG2	liver
36	chr3:135996600-136000200	ZNF genes & repeats	Dnd41	blood
37	chr3:135996600-136000600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:135996800-135999000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:135996800-135999000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:135996800-135999200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:135996800-135999600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:135996800-136003600	Weak transcription	HMEC	breast
43	chr3:135996800-136016000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:135997000-135998800	Weak transcription	Fetal Thymus	thymus
45	chr3:135997000-135999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:135997000-135999200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:135997000-135999200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:135997000-135999200	Weak transcription	Aorta	Aorta
49	chr3:135997000-135999200	Weak transcription	Esophagus	oesophagus
50	chr3:135997000-135999200	Weak transcription	Lung	lung

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