Variant report

Variant	rs67338333
Chromosome Location	chr7:127461701-127461702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127461642..127463502-chr7:127465709..127469347,4	K562	blood:
2	chr7:127461577..127463723-chr7:127469665..127472134,2	K562	blood:
3	chr7:127457487..127459483-chr7:127460285..127462225,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1024910	0.83[EUR][1000 genomes]
rs10954164	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11768841	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11772303	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1193333	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1193335	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12539411	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540484	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12667197	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668077	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672945	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673293	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419967	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16871926	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17151229	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17151377	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17151470	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058457	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241291	0.83[EUR][1000 genomes]
rs2402871	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2543477	0.81[EUR][1000 genomes]
rs3757760	0.82[EUR][1000 genomes]
rs3757763	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3757771	0.83[AMR][1000 genomes]
rs3757778	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757780	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779527	0.82[EUR][1000 genomes]
rs3808078	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808086	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808088	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824003	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728079	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731377	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56185520	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58106688	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59140894	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481385	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481416	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62481419	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62481443	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62481447	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481450	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467155	0.83[EUR][1000 genomes]
rs6467156	0.83[EUR][1000 genomes]
rs698408	0.81[ASN][1000 genomes]
rs712707	0.81[ASN][1000 genomes]
rs712715	0.81[ASN][1000 genomes]
rs712718	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs712719	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765971	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789322	0.82[EUR][1000 genomes]
rs806166	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs806169	0.81[ASN][1000 genomes]
rs806172	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs806174	0.83[AMR][1000 genomes]
rs882694	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9791922	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][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	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	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127449800-127469200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:127450800-127471200	Weak transcription	Dnd41	blood
7	chr7:127452800-127462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:127453800-127463000	Weak transcription	Spleen	Spleen
9	chr7:127454600-127463000	Weak transcription	Ovary	ovary
10	chr7:127456400-127469000	Weak transcription	Left Ventricle	heart
11	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
12	chr7:127456600-127469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:127457000-127463000	Weak transcription	Pancreas	Pancrea
14	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:127457000-127497800	Weak transcription	Gastric	stomach
16	chr7:127458600-127461800	Enhancers	HepG2	liver
17	chr7:127459600-127463400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:127459600-127463400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:127460000-127463000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:127460200-127463600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:127460600-127462800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:127460600-127463000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:127460600-127464600	Weak transcription	A549	lung
24	chr7:127460800-127462400	Weak transcription	Primary B cells from cord blood	blood
25	chr7:127460800-127462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:127461000-127462600	Weak transcription	HMEC	breast
29	chr7:127461000-127462800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127461000-127463000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:127461000-127463000	Weak transcription	Fetal Intestine Large	intestine
32	chr7:127461000-127469200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
36	chr7:127461200-127462200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:127461200-127462400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:127461200-127462800	Weak transcription	Fetal Lung	lung
39	chr7:127461200-127463000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:127461200-127463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:127461200-127463000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:127461200-127463000	Weak transcription	Small Intestine	intestine
43	chr7:127461200-127463200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:127461200-127463200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:127461200-127464800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:127461400-127462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:127461400-127462600	Weak transcription	Placenta	Placenta
48	chr7:127461400-127462600	Weak transcription	NHEK	skin
49	chr7:127461400-127462800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:127461400-127463000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links