Variant report

Variant	rs1530622
Chromosome Location	chr2:46618781-46618782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46616106..46618804-chr2:46660579..46662953,2	K562	blood:
2	chr2:46606032..46607811-chr2:46618358..46620787,2	K562	blood:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11675232	0.88[AMR][1000 genomes]
rs11675328	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11675441	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11678465	0.81[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11678817	0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11681242	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11686509	0.87[ASN][1000 genomes]
rs11686705	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11689649	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11689694	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11690114	0.81[ASN][1000 genomes]
rs11690951	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11691694	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11692911	0.82[AMR][1000 genomes]
rs11693596	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11693754	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11694193	0.82[CEU][hapmap];0.83[CHB][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13006131	0.85[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13019268	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs1868092	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1868093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1868094	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35193335	0.88[ASN][1000 genomes]
rs4952823	0.91[ASN][1000 genomes]
rs55826825	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56161503	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58481769	0.87[ASN][1000 genomes]
rs59034065	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62138871	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7557402	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7567582	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7583088	0.85[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7583392	0.85[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7591548	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7594278	0.81[CEU][hapmap];0.83[CHB][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7598371	0.81[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7606559	0.90[AMR][1000 genomes];0.83[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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46592200-46619800	Weak transcription	K562	blood
2	chr2:46612000-46620600	Weak transcription	Psoas Muscle	Psoas
3	chr2:46612000-46622400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
5	chr2:46614400-46620600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:46614600-46623000	Weak transcription	Esophagus	oesophagus
7	chr2:46615400-46624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:46615600-46620000	Weak transcription	Lung	lung
9	chr2:46615600-46620000	Weak transcription	HUVEC	blood vessel
10	chr2:46615600-46622400	Weak transcription	Spleen	Spleen
11	chr2:46615800-46619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:46615800-46622200	Weak transcription	A549	lung
13	chr2:46615800-46622200	Weak transcription	NHEK	skin
14	chr2:46616200-46622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:46616800-46618800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:46616800-46619800	Weak transcription	Right Ventricle	heart
17	chr2:46616800-46620000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:46616800-46621600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:46617000-46620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:46617000-46621600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:46617000-46621800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:46617400-46620000	Weak transcription	NHDF-Ad	bronchial
23	chr2:46617400-46620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:46617400-46621200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:46617400-46622000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:46617600-46619800	Weak transcription	HepG2	liver
27	chr2:46617600-46620200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:46618000-46620200	Weak transcription	Placenta	Placenta
29	chr2:46618600-46622200	Weak transcription	HMEC	breast
30	chr2:46618600-46622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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