Variant report

Variant	rs7638431
Chromosome Location	chr3:52874779-52874780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52803715..52805902-chr3:52874029..52875964,2	MCF-7	breast:
2	chr3:52864085..52867017-chr3:52872869..52875445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055955	Chromatin interaction
ENSG00000114904	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10049313	0.92[AFR][1000 genomes]
rs13066997	0.95[AFR][1000 genomes]
rs1986738	0.94[AFR][1000 genomes]
rs1986739	0.95[AFR][1000 genomes]
rs2001733	0.95[AFR][1000 genomes]
rs2001734	0.95[AFR][1000 genomes]
rs2245536	0.90[AFR][1000 genomes]
rs2246888	0.95[AFR][1000 genomes]
rs2246889	0.95[AFR][1000 genomes]
rs2256728	0.92[AFR][1000 genomes]
rs2256734	0.92[AFR][1000 genomes]
rs2276814	0.92[AFR][1000 genomes]
rs2276819	0.92[AFR][1000 genomes]
rs2276821	0.94[AFR][1000 genomes]
rs2336155	0.94[AFR][1000 genomes]
rs2336158	0.95[AFR][1000 genomes]
rs2336159	0.95[AFR][1000 genomes]
rs2336546	0.92[AFR][1000 genomes]
rs2336556	0.95[AFR][1000 genomes]
rs2336557	0.95[AFR][1000 genomes]
rs2336559	0.95[AFR][1000 genomes]
rs2535615	0.92[AFR][1000 genomes]
rs2535616	0.92[AFR][1000 genomes]
rs2535617	0.92[AFR][1000 genomes]
rs2535618	0.92[AFR][1000 genomes]
rs2535619	0.90[AFR][1000 genomes]
rs2535620	0.90[AFR][1000 genomes]
rs2535621	0.90[AFR][1000 genomes]
rs2535622	0.92[AFR][1000 genomes]
rs2535623	0.90[AFR][1000 genomes]
rs2535626	0.92[AFR][1000 genomes]
rs2535628	0.92[AFR][1000 genomes]
rs2535631	0.92[AFR][1000 genomes]
rs2535632	0.92[AFR][1000 genomes]
rs2535636	0.92[AFR][1000 genomes]
rs2535637	0.92[AFR][1000 genomes]
rs2535638	0.90[AFR][1000 genomes]
rs2535639	0.91[AFR][1000 genomes]
rs2535641	0.92[AFR][1000 genomes]
rs2535642	0.92[AFR][1000 genomes]
rs2535645	0.83[AFR][1000 genomes]
rs2710318	0.92[AFR][1000 genomes]
rs2710319	0.90[AFR][1000 genomes]
rs2710320	0.90[AFR][1000 genomes]
rs2710321	0.90[AFR][1000 genomes]
rs2710324	0.92[AFR][1000 genomes]
rs2710325	0.92[AFR][1000 genomes]
rs2710328	0.80[AFR][1000 genomes]
rs2710344	0.92[AFR][1000 genomes]
rs2878633	0.94[AFR][1000 genomes]
rs2878634	0.94[AFR][1000 genomes]
rs2878636	0.95[AFR][1000 genomes]
rs3774361	0.92[AFR][1000 genomes]
rs4234637	0.95[AFR][1000 genomes]
rs4687555	0.90[AFR][1000 genomes]
rs4687659	0.93[AFR][1000 genomes]
rs4687661	0.94[AFR][1000 genomes]
rs4687665	0.93[AFR][1000 genomes]
rs4687666	0.95[AFR][1000 genomes]
rs4687667	0.95[AFR][1000 genomes]
rs4687668	0.94[AFR][1000 genomes]
rs4687670	0.93[AFR][1000 genomes]
rs4687671	0.95[AFR][1000 genomes]
rs4687674	0.95[AFR][1000 genomes]
rs4687675	0.95[AFR][1000 genomes]
rs6445540	0.95[AFR][1000 genomes]
rs6445542	0.95[AFR][1000 genomes]
rs6774869	0.94[AFR][1000 genomes]
rs6776990	0.95[AFR][1000 genomes]
rs7623667	0.94[AFR][1000 genomes]
rs7629528	0.95[AFR][1000 genomes]
rs7637212	0.95[AFR][1000 genomes]
rs7645169	0.95[AFR][1000 genomes]
rs7647534	0.95[AFR][1000 genomes]
rs7649515	0.92[AFR][1000 genomes]
rs7650966	0.95[AFR][1000 genomes]
rs7652476	0.93[AFR][1000 genomes]
rs9681089	0.93[AFR][1000 genomes]
rs9682449	0.95[AFR][1000 genomes]
rs9682819	0.95[AFR][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	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv967253	chr3:52871714-52877079	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3364829	chr3:52874657-52874931	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52854800-52888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52856000-52875000	Weak transcription	Fetal Intestine Large	intestine
3	chr3:52862000-52882600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:52864400-52875800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:52865600-52875200	Weak transcription	Dnd41	blood
6	chr3:52865800-52878600	Weak transcription	Small Intestine	intestine
7	chr3:52866000-52884800	Weak transcription	HMEC	breast
8	chr3:52866200-52885200	Weak transcription	NHEK	skin
9	chr3:52866600-52879200	Weak transcription	Osteobl	bone
10	chr3:52866800-52876400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:52866800-52878200	Strong transcription	Fetal Brain Female	brain
12	chr3:52866800-52879600	Genic enhancers	Fetal Thymus	thymus
13	chr3:52867000-52876400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:52867000-52881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:52867000-52881800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:52867200-52875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:52868000-52878800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:52868000-52883200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:52868400-52877800	Strong transcription	Brain Germinal Matrix	brain
20	chr3:52868600-52875200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:52868800-52876800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:52869000-52878800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:52869000-52879400	Strong transcription	Fetal Intestine Small	intestine
24	chr3:52869000-52881800	Weak transcription	Fetal Kidney	kidney
25	chr3:52869400-52875200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:52869400-52875600	Weak transcription	Colonic Mucosa	Colon
27	chr3:52869600-52875000	Strong transcription	Brain Angular Gyrus	brain
28	chr3:52869600-52875200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr3:52869600-52878600	Weak transcription	NHDF-Ad	bronchial
30	chr3:52869600-52879600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:52869600-52881800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:52869800-52875600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:52869800-52876600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:52869800-52882000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:52869800-52884000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:52870000-52875000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:52870000-52878800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr3:52870000-52901000	Weak transcription	Fetal Brain Male	brain
39	chr3:52870200-52875600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr3:52870200-52876600	Strong transcription	Fetal Stomach	stomach
41	chr3:52870400-52875800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:52870400-52876400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:52870400-52877400	Strong transcription	Lung	lung
44	chr3:52870600-52875000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:52870600-52875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:52870600-52877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:52870600-52877400	Strong transcription	Adipose Nuclei	Adipose
48	chr3:52870600-52879400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:52871000-52875000	Weak transcription	HSMM	muscle
50	chr3:52871200-52875000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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