Variant report

Variant	rs12508795
Chromosome Location	chr4:127720918-127720919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10518503	1.00[ASN][1000 genomes]
rs1167191	1.00[ASN][1000 genomes]
rs1167193	1.00[ASN][1000 genomes]
rs11736466	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500894	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12508922	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648553	1.00[ASN][1000 genomes]
rs1393992	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503607	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503629	1.00[ASN][1000 genomes]
rs17202524	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17204565	1.00[ASN][1000 genomes]
rs17205524	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17259504	1.00[ASN][1000 genomes]
rs17262874	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17265230	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910440	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192855	1.00[ASN][1000 genomes]
rs2174182	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220087	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202278	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221359	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391098	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2637572	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2637574	1.00[ASN][1000 genomes]
rs2969612	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313068	0.83[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs313073	1.00[ASN][1000 genomes]
rs313074	1.00[ASN][1000 genomes]
rs313078	1.00[ASN][1000 genomes]
rs313079	1.00[ASN][1000 genomes]
rs313080	1.00[ASN][1000 genomes]
rs313113	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313114	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313117	1.00[ASN][1000 genomes]
rs313122	1.00[ASN][1000 genomes]
rs313125	1.00[ASN][1000 genomes]
rs313128	1.00[ASN][1000 genomes]
rs35780812	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386871	1.00[ASN][1000 genomes]
rs411063	1.00[ASN][1000 genomes]
rs433919	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429742	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443349	1.00[ASN][1000 genomes]
rs450760	1.00[ASN][1000 genomes]
rs4580666	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4834138	1.00[ASN][1000 genomes]
rs5004420	0.82[EUR][1000 genomes]
rs6534580	1.00[ASN][1000 genomes]
rs6821115	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655747	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672599	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675809	1.00[ASN][1000 genomes]
rs7682805	1.00[ASN][1000 genomes]
rs7697724	0.83[CEU][hapmap]
rs951783	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv818269	chr4:127700428-127727154	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12508795	INTU	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127715800-127721000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:127715800-127721000	Weak transcription	Fetal Heart	heart
3	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:127716200-127721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:127716400-127721000	Weak transcription	NHEK	skin
6	chr4:127718800-127721000	Weak transcription	K562	blood
7	chr4:127720400-127722400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:127720400-127722400	Enhancers	Fetal Lung	lung
9	chr4:127720600-127721200	Enhancers	HSMMtube	muscle
10	chr4:127720600-127721400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:127720600-127721400	Enhancers	HSMM	muscle
12	chr4:127720600-127721800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:127720600-127721800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:127720600-127722000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:127720600-127722000	Enhancers	NHDF-Ad	bronchial
16	chr4:127720600-127722200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:127720600-127722200	Enhancers	NHLF	lung
18	chr4:127720600-127722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:127720600-127722400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:127720800-127721400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:127720800-127721400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:127720800-127721800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:127720800-127722200	Enhancers	Fetal Stomach	stomach
24	chr4:127720800-127722200	Enhancers	Osteobl	bone

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