Variant report

Variant	rs2396536
Chromosome Location	chr7:112073707-112073708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr7:112073339-112073790	K562	blood:	n/a	n/a
2	PML	chr7:112073386-112073782	K562	blood:	n/a	n/a
3	GATA2	chr7:112073337-112073806	K562	blood:	n/a	n/a
4	STAT5A	chr7:112073339-112073816	K562	blood:	n/a	n/a
5	CEBPD	chr7:112073332-112073849	K562	blood:	n/a	n/a
6	TAL1	chr7:112073387-112073783	K562	blood:	n/a	n/a
7	POLR2A	chr7:112073383-112073712	K562	blood:	n/a	n/a
8	TEAD4	chr7:112073285-112073804	K562	blood:	n/a	n/a
9	ATF1	chr7:112073465-112073743	K562	blood:	n/a	n/a
10	RCOR1	chr7:112073349-112073772	K562	blood:	n/a	n/a
11	PML	chr7:112073320-112073811	K562	blood:	n/a	n/a
12	POLR2A	chr7:112073279-112073736	HL-60	blood:	n/a	n/a
13	GATA2	chr7:112073343-112073752	K562	blood:	n/a	n/a
14	GABPA	chr7:112073421-112073780	K562	blood:	n/a	n/a
15	TBL1XR1	chr7:112073472-112073744	K562	blood:	n/a	n/a
16	TEAD4	chr7:112073285-112073880	K562	blood:	n/a	n/a
17	NR2F2	chr7:112073359-112073748	K562	blood:	n/a	n/a
18	TRIM28	chr7:112073363-112073747	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112071817..112074213-chr7:112075393..112077326,2	K562	blood:
2	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
3	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:
4	chr7:112071300..112074069-chr7:112086981..112088572,2	K562	blood:

No data

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11763768	0.89[CEU][hapmap]
rs12673259	0.85[CEU][hapmap]
rs13230061	0.89[CEU][hapmap]
rs2520473	0.89[CEU][hapmap]
rs2708592	0.86[CEU][hapmap]
rs2708597	0.89[CEU][hapmap]
rs2708603	0.86[CEU][hapmap]
rs3109114	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 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	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112064400-112074800	Weak transcription	A549	lung
4	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
5	chr7:112068600-112077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:112071000-112077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:112072000-112073800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:112072400-112073800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:112072400-112074600	Enhancers	Dnd41	blood
10	chr7:112072400-112074800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:112073000-112073800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:112073200-112073800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:112073200-112073800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:112073200-112074200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:112073400-112073800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:112073400-112073800	Enhancers	K562	blood
17	chr7:112073600-112073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:112073600-112073800	Enhancers	HSMMtube	muscle
19	chr7:112073600-112074800	Weak transcription	NHEK	skin
20	chr7:112073600-112075000	Weak transcription	HMEC	breast
21	chr7:112073600-112075200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links