Variant report

Variant	rs4730519
Chromosome Location	chr7:111915589-111915590
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	chr7:111911985..111913618-chr7:111915541..111918421,2	K562	blood:
2	chr7:111915123..111916714-chr7:111926590..111929489,2	K562	blood:

Variant related genes	Relation type
ENSG00000202406	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10233673	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10240912	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251236	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10257677	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10266365	0.84[ASN][1000 genomes]
rs10953706	0.87[ASN][1000 genomes]
rs11773464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113149	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12154685	0.89[ASN][1000 genomes]
rs12537746	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705817	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236012	0.83[ASN][1000 genomes]
rs4132325	0.84[ASN][1000 genomes]
rs4464880	0.86[ASN][1000 genomes]
rs4640999	0.86[ASN][1000 genomes]
rs4727766	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730524	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6949809	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6966390	0.84[ASN][1000 genomes]
rs6966694	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974364	0.84[ASN][1000 genomes]
rs6976889	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978767	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6979385	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs736771	0.88[ASN][1000 genomes]
rs757195	0.84[ASN][1000 genomes]
rs757196	0.84[ASN][1000 genomes]
rs7792159	0.86[ASN][1000 genomes]
rs7802828	0.81[ASN][1000 genomes]
rs7811283	0.86[ASN][1000 genomes]
rs960348	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
3	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:111903800-111916000	Weak transcription	Small Intestine	intestine
5	chr7:111903800-111917000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:111903800-111926000	Weak transcription	Psoas Muscle	Psoas
7	chr7:111905400-111926000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:111907200-111915600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:111907200-111922400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:111907400-111928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:111908200-111916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:111913400-111916000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:111913400-111926000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:111913600-111916800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:111913600-111917800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:111913600-111929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:111915200-111916400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:111915200-111917800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:111915400-111916800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:111915400-111919600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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