Variant report

Variant	rs62481393
Chromosome Location	chr7:127449576-127449577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127447814..127450156-chr7:127451713..127454523,2	MCF-7	breast:
2	chr7:127448367..127450506-chr7:127451925..127454974,3	K562	blood:
3	chr7:127448367..127450194-chr7:127452894..127454797,2	K562	blood:
4	chr7:127432019..127433909-chr7:127448811..127450674,2	K562	blood:
5	chr7:127449157..127451267-chr7:127479251..127481179,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10487496	1.00[AMR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes]
rs13235596	1.00[AMR][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17730294	1.00[AMR][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2272374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34188289	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35120956	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35872516	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3757785	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3808062	0.80[EUR][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes]
rs3808111	0.89[AMR][1000 genomes]
rs3808115	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58451280	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62481380	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs737242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs746238	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:127437200-127455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:127439400-127455400	Weak transcription	Pancreas	Pancrea
5	chr7:127440200-127452600	Weak transcription	Psoas Muscle	Psoas
6	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127440400-127452200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:127440400-127452200	Weak transcription	Fetal Lung	lung
9	chr7:127440600-127450000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:127441200-127460000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:127441400-127458200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:127441600-127452400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:127442800-127450400	Weak transcription	HUVEC	blood vessel
14	chr7:127443200-127460200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:127443400-127452000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:127444600-127451800	Strong transcription	HepG2	liver
17	chr7:127444800-127453600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:127446600-127452200	Weak transcription	Fetal Kidney	kidney
19	chr7:127446600-127455800	Weak transcription	Fetal Heart	heart
20	chr7:127446600-127456200	Weak transcription	Esophagus	oesophagus
21	chr7:127447200-127449600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:127447200-127450000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:127447400-127449600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:127447400-127449600	Enhancers	Brain Angular Gyrus	brain
25	chr7:127447400-127449800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:127447400-127449800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr7:127447400-127450600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:127447400-127451600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:127447600-127449600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127447600-127449600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:127447600-127449600	Strong transcription	Thymus	Thymus
32	chr7:127447600-127449800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:127447600-127449800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127447600-127449800	Strong transcription	Fetal Intestine Large	intestine
35	chr7:127447600-127449800	Strong transcription	Fetal Thymus	thymus
36	chr7:127447600-127449800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:127447600-127450000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127447600-127450200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:127447600-127450400	Strong transcription	Adipose Nuclei	Adipose
40	chr7:127447600-127450400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:127447600-127450800	Strong transcription	Dnd41	blood
42	chr7:127447600-127451200	Strong transcription	Primary B cells from cord blood	blood
43	chr7:127447600-127452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127447600-127453600	Strong transcription	Primary T cells from cord blood	blood
45	chr7:127447800-127449600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:127447800-127449600	Strong transcription	Ovary	ovary
47	chr7:127447800-127449800	Strong transcription	Fetal Stomach	stomach
48	chr7:127447800-127449800	Strong transcription	Gastric	stomach
49	chr7:127447800-127450000	Strong transcription	Liver	Liver
50	chr7:127448000-127449800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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