Variant report

Variant	rs4265140
Chromosome Location	chr7:50658964-50658965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50651220..50655570-chr7:50655911..50660457,6	K562	blood:
2	chr7:50650775..50655570-chr7:50656344..50660954,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10235371	1.00[YRI][hapmap]
rs2329343	1.00[YRI][hapmap]
rs4304294	1.00[AFR][1000 genomes]
rs4394339	0.81[AFR][1000 genomes]
rs4947396	1.00[YRI][hapmap]
rs4947693	0.95[AFR][1000 genomes]
rs4947701	0.95[AFR][1000 genomes]
rs6264	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs6593020	0.95[AFR][1000 genomes]
rs6972476	1.00[YRI][hapmap]
rs7789167	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr7:50650800-50659600	Weak transcription	Ovary	ovary
2	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
4	chr7:50652800-50660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50653000-50659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:50653000-50660000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:50653200-50672400	Weak transcription	NHEK	skin
8	chr7:50653400-50659800	Weak transcription	Fetal Lung	lung
9	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:50654400-50660200	Weak transcription	Gastric	stomach
12	chr7:50654800-50659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:50654800-50659200	Weak transcription	Hela-S3	cervix
14	chr7:50655200-50659000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:50655200-50660400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:50655800-50659600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:50655800-50659800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:50656000-50659000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:50656400-50659000	Weak transcription	Lung	lung
20	chr7:50656400-50659400	Weak transcription	Fetal Brain Female	brain
21	chr7:50656400-50660200	Weak transcription	HUVEC	blood vessel
22	chr7:50656600-50659200	Weak transcription	A549	lung
23	chr7:50656600-50659400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:50656800-50659000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:50657000-50659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:50657000-50659000	Weak transcription	Fetal Stomach	stomach
27	chr7:50657000-50659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:50657000-50659200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:50657000-50659600	Weak transcription	Pancreas	Pancrea
30	chr7:50657000-50662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:50657200-50659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:50657200-50659200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:50657200-50659200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:50657200-50659200	Weak transcription	Spleen	Spleen
35	chr7:50657200-50659400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:50657200-50659400	Weak transcription	Placenta	Placenta
37	chr7:50657200-50659600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:50657200-50660200	Weak transcription	Aorta	Aorta
39	chr7:50657200-50670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:50657400-50659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:50657400-50659400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:50657400-50659800	Weak transcription	Left Ventricle	heart
44	chr7:50657400-50660200	Weak transcription	K562	blood
45	chr7:50657600-50659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:50657600-50659600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:50657800-50659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:50657800-50659800	Weak transcription	Osteobl	bone
49	chr7:50657800-50660200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:50657800-50660400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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