Variant report

Variant	rs7538650
Chromosome Location	chr1:174757959-174757960
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	chr1:174756924..174758922-chr1:174761115..174763759,2	K562	blood:
2	chr1:174755205..174759799-chr1:174964409..174969303,4	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10912824	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs170768	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793291	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793293	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793319	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894200	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038025	0.82[EUR][1000 genomes]
rs332783	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332794	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs332796	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332799	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs333418	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650666	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6658861	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6688577	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs913685	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174752400-174760800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:174752400-174764000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:174752400-174764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:174753600-174758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:174756800-174759000	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:174756800-174759600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:174756800-174760000	Enhancers	HSMMtube	muscle
9	chr1:174757000-174758000	Enhancers	Osteobl	bone
10	chr1:174757000-174758200	Enhancers	K562	blood
11	chr1:174757000-174758800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:174757000-174759400	Enhancers	NHEK	skin
13	chr1:174757200-174758200	Enhancers	Liver	Liver
14	chr1:174757200-174758800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:174757200-174759200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:174757200-174759200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:174757200-174759200	Enhancers	HSMM	muscle
18	chr1:174757400-174758800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:174757400-174759200	Enhancers	HMEC	breast
20	chr1:174757600-174758000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:174757600-174758000	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:174757600-174759000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:174757600-174759200	Enhancers	NHDF-Ad	bronchial
24	chr1:174757800-174758000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:174757800-174758000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:174757800-174758200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:174757800-174758200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:174757800-174758200	Enhancers	Lung	lung
29	chr1:174757800-174758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:174757800-174758400	Enhancers	NH-A	brain
31	chr1:174757800-174758600	Enhancers	Aorta	Aorta
32	chr1:174757800-174758800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:174757800-174758800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:174757800-174759200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:174757800-174759400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links