Variant report

Variant	rs7595132
Chromosome Location	chr2:20794079-20794080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20791687-20794320	HepG2	liver:	n/a	n/a
2	HEY1	chr2:20792836-20794153	HepG2	liver:	n/a	n/a
3	MBD4	chr2:20792239-20794082	HepG2	liver:	n/a	n/a
4	NR2F2	chr2:20792439-20794095	HepG2	liver:	n/a	chr2:20793427-20793442
5	POLR2A	chr2:20792925-20794121	HepG2	liver:	n/a	n/a
6	JUN	chr2:20792872-20794261	K562	blood:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
7	TEAD4	chr2:20792161-20794156	HepG2	liver:	n/a	n/a
8	BRCA1	chr2:20793984-20794315	HepG2	liver:	n/a	n/a
9	MYBL2	chr2:20791829-20794524	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
2	chr2:20793781..20795387-chr2:20795652..20798532,2	K562	blood:
3	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
4	chr2:20686409..20689229-chr2:20793037..20794863,2	MCF-7	breast:
5	chr2:20694947..20697605-chr2:20792933..20794613,2	MCF-7	breast:
6	chr2:20785265..20787033-chr2:20792935..20794883,2	MCF-7	breast:
7	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
8	chr2:20767266..20769028-chr2:20793726..20796533,2	K562	blood:
9	chr2:20784163..20786583-chr2:20792834..20795600,2	MCF-7	breast:
10	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
11	chr2:20689974..20693202-chr2:20793219..20795538,3	MCF-7	breast:
12	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
13	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

No data

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000269976	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11885876	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs55793738	0.81[AFR][1000 genomes]
rs57360378	0.82[AFR][1000 genomes]
rs58726406	0.84[AFR][1000 genomes]
rs59618840	0.84[AFR][1000 genomes]
rs59771803	0.81[AFR][1000 genomes]
rs60759855	0.81[AFR][1000 genomes]
rs61272752	0.81[AFR][1000 genomes]
rs62124225	0.82[AFR][1000 genomes]
rs62124226	0.82[AFR][1000 genomes]
rs62124227	0.82[AFR][1000 genomes]
rs62124228	0.82[AFR][1000 genomes]
rs62124229	0.82[AFR][1000 genomes]
rs62124230	0.82[AFR][1000 genomes]
rs62124231	0.82[AFR][1000 genomes]
rs62124232	0.82[AFR][1000 genomes]
rs62124234	0.84[AFR][1000 genomes]
rs7340497	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73919920	0.81[AFR][1000 genomes]
rs73919921	0.81[AFR][1000 genomes]
rs73919922	0.81[AFR][1000 genomes]
rs73919924	0.81[AFR][1000 genomes]
rs73919928	0.82[AFR][1000 genomes]
rs73919930	0.92[AFR][1000 genomes]
rs7564684	0.81[AFR][1000 genomes]
rs7574045	0.81[AFR][1000 genomes]
rs7588678	1.00[JPT][hapmap];0.86[AFR][1000 genomes]
rs7601273	0.81[AFR][1000 genomes]
rs896737	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
6	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
9	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
10	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:20789200-20797000	Enhancers	Spleen	Spleen
15	chr2:20789200-20800400	Enhancers	Placenta	Placenta
16	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
18	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
19	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:20791200-20795000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:20791200-20795200	Weak transcription	Esophagus	oesophagus
24	chr2:20791200-20795400	Weak transcription	Fetal Brain Male	brain
25	chr2:20791200-20795600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
27	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:20791800-20796400	Weak transcription	Pancreas	Pancrea
29	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:20792000-20794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20792000-20797800	Enhancers	HSMM	muscle
33	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:20792200-20794400	Enhancers	HMEC	breast
35	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:20792200-20797800	Enhancers	NH-A	brain
38	chr2:20792200-20798200	Enhancers	Ovary	ovary
39	chr2:20792400-20794200	Enhancers	HSMMtube	muscle
40	chr2:20792400-20794600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:20792400-20794800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:20792400-20797600	Enhancers	A549	lung
43	chr2:20792400-20797800	Enhancers	Lung	lung
44	chr2:20792400-20797800	Enhancers	NHLF	lung
45	chr2:20792400-20798400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:20792400-20800200	Enhancers	Right Atrium	heart
47	chr2:20792600-20794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:20792600-20797200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:20792600-20797800	Enhancers	NHDF-Ad	bronchial
50	chr2:20792800-20797200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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