Variant report

Variant	rs38726
Chromosome Location	chr7:140702093-140702094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140701817-140703904	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:140702067-140702473	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:
2	chr7:140701510..140704472-chr7:140705422..140707944,2	MCF-7	breast:
3	chr7:140700885..140703018-chr7:140705505..140708464,2	MCF-7	breast:
4	chr7:140700390..140704443-chr7:140712773..140714840,3	K562	blood:
5	chr7:140701629..140704089-chr7:140709964..140711981,2	MCF-7	breast:

Variant related genes	Relation type
CCT4P1	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10215245	0.82[ASN][1000 genomes]
rs10240888	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1044927	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10488098	0.89[CEU][hapmap]
rs1089264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10952364	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12538296	0.86[ASN][1000 genomes]
rs13234490	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs13236704	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs13438609	0.82[EUR][1000 genomes]
rs1476816	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1476868	0.89[CEU][hapmap]
rs1533933	0.82[ASN][1000 genomes]
rs16882367	0.81[ASN][1000 genomes]
rs17622717	0.90[CEU][hapmap]
rs17623204	0.89[CEU][hapmap]
rs17695341	0.90[CEU][hapmap]
rs17695623	0.90[CEU][hapmap]
rs17695707	0.90[CEU][hapmap]
rs17695935	0.89[CEU][hapmap]
rs17695995	0.90[CEU][hapmap]
rs1860720	0.82[ASN][1000 genomes]
rs2079827	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2079978	0.82[ASN][1000 genomes]
rs246739	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2688430	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805116	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs38715	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38718	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs38720	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38722	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38723	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38730	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38734	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38736	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38739	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38740	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726225	0.85[CHB][hapmap]
rs488795	0.85[CHB][hapmap]
rs512509	0.85[CHB][hapmap]
rs528957	1.00[CHB][hapmap]
rs557962	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs56347011	0.81[EUR][1000 genomes]
rs58901822	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60164573	0.81[EUR][1000 genomes]
rs62485391	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62485451	0.85[EUR][1000 genomes]
rs62485452	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62485453	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6464217	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6464260	0.82[ASN][1000 genomes]
rs6662	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6967214	0.80[ASN][1000 genomes]
rs6971577	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7792447	0.82[ASN][1000 genomes]
rs7801518	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs7810757	0.89[CEU][hapmap]
rs801117	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801127	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9274	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698400-140705400	Weak transcription	Fetal Lung	lung
2	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
3	chr7:140699000-140704000	Enhancers	Fetal Intestine Large	intestine
4	chr7:140699400-140703800	Enhancers	Fetal Intestine Small	intestine
5	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:140700400-140703800	Enhancers	Liver	Liver
7	chr7:140700600-140705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:140700800-140703000	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:140700800-140703800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:140701200-140703200	Weak transcription	Pancreas	Pancrea
12	chr7:140701200-140705600	Weak transcription	Small Intestine	intestine
13	chr7:140701400-140713400	Weak transcription	NHLF	lung
14	chr7:140701600-140702800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:140702000-140702600	Enhancers	HepG2	liver
16	chr7:140702000-140704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:140702000-140705200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:140702000-140705400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:140702000-140705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney

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