Variant report

Variant	rs1024910
Chromosome Location	chr7:127632704-127632705
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	chr7:127631936..127634219-chr7:127649404..127651482,2	K562	blood:
2	chr7:127632086..127635094-chr7:127636787..127638892,4	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10954164	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11768841	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1193331	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1193333	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1193335	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193336	0.84[ASN][1000 genomes]
rs124756	0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes]
rs12539411	0.83[EUR][1000 genomes]
rs12668077	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12673293	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1345509	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1419967	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1419968	0.88[JPT][hapmap]
rs16871926	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17151377	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17151470	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2058457	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543477	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322813	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes]
rs322816	0.86[AMR][1000 genomes]
rs322817	0.89[AMR][1000 genomes]
rs322819	0.85[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes]
rs322820	0.81[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes]
rs322821	0.81[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes]
rs322822	0.90[AMR][1000 genomes]
rs322823	0.85[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes]
rs322824	0.90[AMR][1000 genomes]
rs322825	0.85[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs322826	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs322827	0.88[JPT][hapmap]
rs322828	0.88[JPT][hapmap]
rs322829	0.90[AMR][1000 genomes]
rs322830	0.90[AMR][1000 genomes]
rs322837	0.90[AMR][1000 genomes]
rs322840	0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs35774036	0.83[ASN][1000 genomes]
rs3757754	0.90[AMR][1000 genomes]
rs3757759	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757771	0.84[AMR][1000 genomes]
rs3757778	0.83[EUR][1000 genomes]
rs3779522	0.90[AMR][1000 genomes]
rs3779523	0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes]
rs3779526	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs3779527	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808056	0.88[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs3808077	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3808078	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808086	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808088	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823995	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3824003	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4728079	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4731389	0.81[ASN][1000 genomes]
rs58106688	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481416	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481419	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481443	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62481447	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481450	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467155	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467156	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67338333	0.83[EUR][1000 genomes]
rs6969233	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6972847	0.83[EUR][1000 genomes]
rs6973092	0.94[JPT][hapmap]
rs765971	0.80[AMR][1000 genomes]
rs7789322	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882694	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791922	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[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	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3329226	chr7:127632340-127632862	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
2	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
3	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:127618200-127633400	Weak transcription	Hela-S3	cervix
5	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:127622000-127633400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:127623600-127636800	Weak transcription	Small Intestine	intestine
9	chr7:127624600-127635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:127626000-127635000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127626000-127635000	Weak transcription	Psoas Muscle	Psoas
12	chr7:127626600-127635400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
14	chr7:127627600-127633200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127627600-127633400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:127627600-127633400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:127627600-127634000	Weak transcription	Right Ventricle	heart
18	chr7:127627600-127634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:127627600-127635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:127627600-127637600	Weak transcription	Stomach Mucosa	stomach
21	chr7:127628400-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:127628400-127636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:127628400-127639400	Strong transcription	GM12878-XiMat	blood
24	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:127628600-127633400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:127628600-127635000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:127629000-127633800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:127629000-127633800	Weak transcription	Right Atrium	heart
29	chr7:127629400-127634400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:127629400-127635000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:127629400-127635200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:127629600-127633600	Weak transcription	HSMMtube	muscle
33	chr7:127629600-127635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:127629800-127635000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:127629800-127635200	Weak transcription	Brain Angular Gyrus	brain
36	chr7:127630000-127634200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:127630200-127633800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:127630200-127635400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:127630200-127638000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr7:127630400-127633600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:127630400-127634400	Strong transcription	NHEK	skin
42	chr7:127630400-127634600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:127630400-127634600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:127630400-127635600	Strong transcription	HepG2	liver
45	chr7:127630400-127638800	Strong transcription	Primary B cells from cord blood	blood
46	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:127630600-127633600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:127630600-127634200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:127630600-127634400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:127630600-127634400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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