Variant report

Variant	rs7596360
Chromosome Location	chr2:178555633-178555634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178546208..178548509-chr2:178552748..178555951,3	K562	blood:
2	chr2:178553724..178556122-chr2:178557669..178561053,4	K562	blood:
3	chr2:178554622..178556769-chr2:178559553..178561777,2	K562	blood:

Variant related genes	Relation type
ENSG00000128655	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1004541	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs1004542	0.88[ASN][1000 genomes]
rs10175364	0.82[CHB][hapmap]
rs10192481	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs10201180	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10930805	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11677821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684634	0.82[CHB][hapmap]
rs12622125	0.84[CHB][hapmap]
rs12987101	1.00[JPT][hapmap]
rs12989020	1.00[JPT][hapmap]
rs13012431	1.00[JPT][hapmap]
rs13428806	0.82[CHB][hapmap]
rs1344917	0.81[CHB][hapmap]
rs1347731	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1370662	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs1370663	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1370664	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1438038	0.91[CHB][hapmap]
rs1438039	0.84[CHB][hapmap]
rs1438048	0.82[CHB][hapmap]
rs1438054	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438055	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469972	0.88[ASN][1000 genomes]
rs1469973	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1561315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561319	0.84[CHB][hapmap]
rs1561320	0.84[CHB][hapmap]
rs16865645	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs17400512	1.00[JPT][hapmap]
rs1866208	0.83[CHB][hapmap]
rs1866209	0.82[CHB][hapmap]
rs1866210	0.82[CHB][hapmap]
rs1975321	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1975322	0.88[ASN][1000 genomes]
rs2033760	0.88[ASN][1000 genomes]
rs2164857	0.82[CHB][hapmap]
rs2164860	0.88[ASN][1000 genomes]
rs2365623	0.82[YRI][hapmap]
rs2886424	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2886498	0.84[CHB][hapmap]
rs3731809	0.88[ASN][1000 genomes]
rs3754991	0.82[CHB][hapmap]
rs3754993	0.82[CHB][hapmap]
rs3770023	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3770034	0.82[CHB][hapmap]
rs4893839	0.82[CHB][hapmap]
rs4893840	0.84[CHB][hapmap]
rs4893980	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4893981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893985	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs4893987	0.82[CHB][hapmap]
rs6718702	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6739583	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6756240	0.84[CHB][hapmap]
rs6760930	0.88[ASN][1000 genomes]
rs749207	0.84[CHB][hapmap]
rs749208	0.83[CHB][hapmap]
rs934809	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs998059	0.82[CHB][hapmap]
rs999218	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2762967	chr2:178546919-178577002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1005991	chr2:178550049-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv528219	chr2:178551924-178567151	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1003983	chr2:178551958-178577002	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
2	chr2:178550000-178557000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:178550400-178555800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:178553000-178557000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:178553000-178557000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:178553200-178557000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:178553200-178557200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:178554600-178556400	Weak transcription	Liver	Liver
9	chr2:178554800-178556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:178554800-178556400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:178554800-178557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:178554800-178557800	Weak transcription	Gastric	stomach
13	chr2:178555000-178557200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:178555000-178557200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:178555000-178558600	Weak transcription	Stomach Mucosa	stomach
16	chr2:178555200-178557800	Weak transcription	K562	blood
17	chr2:178555400-178559200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:178555400-178559800	Enhancers	Fetal Kidney	kidney
19	chr2:178555600-178556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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