Variant report

Variant	rs7629493
Chromosome Location	chr3:52828968-52828969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52828167-52829123	HepG2	liver:	n/a	n/a
2	HEY1	chr3:52828037-52829130	HepG2	liver:	n/a	n/a
3	EP300	chr3:52828483-52828990	HepG2	liver:	n/a	n/a
4	BHLHE40	chr3:52828615-52829002	HepG2	liver:	n/a	n/a
5	RCOR1	chr3:52828400-52829020	HepG2	liver:	n/a	n/a
6	HEY1	chr3:52828466-52828971	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:52828100-52829094	HepG2	liver:	n/a	n/a
8	MAX	chr3:52828157-52828969	HepG2	liver:	n/a	n/a
9	MYBL2	chr3:52828031-52829047	HepG2	liver:	n/a	n/a
10	TBP	chr3:52828604-52829006	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:52828113-52829875	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:52828594-52829011	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:52828483-52829021	HepG2	liver:	n/a	n/a
14	YY1	chr3:52828502-52829097	HepG2	liver:	n/a	n/a
15	MAX	chr3:52828001-52830006	HepG2	liver:	n/a	chr3:52829250-52829260
16	POLR2A	chr3:52828351-52829011	HepG2	liver:	n/a	n/a
17	REST	chr3:52828551-52828999	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:
2	chr3:52827101..52830669-chr3:52833208..52834941,3	K562	blood:
3	chr3:52812843..52815732-chr3:52828403..52831078,2	K562	blood:
4	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
5	chr3:52828891..52830949-chr3:52832398..52834314,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000162267	Chromatin interaction
ENSG00000114904	Chromatin interaction
ENSG00000055957	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61229218	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1810629	chr3:52817031-52869635	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876797	chr3:52817675-52873984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:52826000-52829000	Enhancers	Fetal Muscle Leg	muscle
4	chr3:52827000-52830600	Enhancers	Spleen	Spleen
5	chr3:52827400-52829000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:52827400-52829000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:52827600-52829000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:52827600-52829800	Flanking Active TSS	HepG2	liver
9	chr3:52827800-52829200	Enhancers	Fetal Intestine Small	intestine
10	chr3:52827800-52829400	Enhancers	Fetal Intestine Large	intestine
11	chr3:52827800-52830000	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:52827800-52832000	Weak transcription	HSMM	muscle
13	chr3:52828000-52829000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:52828000-52830200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:52828200-52829000	Flanking Active TSS	Liver	Liver
16	chr3:52828200-52829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:52828200-52829600	Enhancers	Placenta	Placenta
18	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
19	chr3:52828400-52829000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:52828400-52829000	Enhancers	NHDF-Ad	bronchial
21	chr3:52828400-52829000	Enhancers	Osteobl	bone
22	chr3:52828400-52829200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:52828600-52829000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:52828600-52832600	Weak transcription	Stomach Mucosa	stomach
25	chr3:52828800-52829000	Enhancers	Brain Substantia Nigra	brain
26	chr3:52828800-52830400	Enhancers	Pancreas	Pancrea

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