Variant report

Variant	rs12505147
Chromosome Location	chr4:76651981-76651982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76648296-76652105	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:76651843-76652427	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:76651715-76652155	ProgFib	skin:	n/a	n/a
4	POLR2A	chr4:76651615-76652173	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:76651542-76652471	GM12878	blood:	n/a	n/a
6	RCOR1	chr4:76651673-76652192	K562	blood:	n/a	n/a
7	POLR2A	chr4:76651510-76653519	K562	blood:	n/a	n/a
8	WRNIP1	chr4:76651784-76652025	GM12878	blood:	n/a	n/a
9	RCOR1	chr4:76651812-76652259	K562	blood:	n/a	n/a
10	POLR2A	chr4:76651656-76652140	HepG2	liver:	n/a	n/a
11	ZNF384	chr4:76651316-76652007	K562	blood:	n/a	n/a
12	HDAC2	chr4:76651820-76652155	K562	blood:	n/a	n/a
13	POLR2A	chr4:76651809-76652680	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:76651712-76652122	GM12891	blood:	n/a	n/a
15	POLR2A	chr4:76651491-76652715	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:76596286..76601002-chr4:76645864..76652581,23	K562	blood:
2	chr4:76649785..76652192-chr4:76726091..76728026,2	K562	blood:
3	chr4:76581494..76583599-chr4:76650728..76652351,2	K562	blood:
4	chr4:76580627..76584350-chr4:76648394..76652351,4	K562	blood:
5	chr4:76595601..76600505-chr4:76645864..76652704,29	K562	blood:

No data

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10031352	0.92[ASN][1000 genomes]
rs11097117	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097121	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11727895	0.92[ASN][1000 genomes]
rs11734358	0.94[ASN][1000 genomes]
rs11935073	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233780	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508992	0.92[ASN][1000 genomes]
rs12511212	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511575	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16996019	0.84[ASN][1000 genomes]
rs17000786	0.92[ASN][1000 genomes]
rs17000794	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17000864	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186563	0.92[ASN][1000 genomes]
rs2089253	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28573275	0.92[ASN][1000 genomes]
rs28680723	0.92[ASN][1000 genomes]
rs324686	0.92[ASN][1000 genomes]
rs324688	0.92[ASN][1000 genomes]
rs324690	0.92[ASN][1000 genomes]
rs324691	0.92[ASN][1000 genomes]
rs324693	0.92[ASN][1000 genomes]
rs324696	0.92[ASN][1000 genomes]
rs324697	0.92[ASN][1000 genomes]
rs324698	0.92[ASN][1000 genomes]
rs324700	0.92[ASN][1000 genomes]
rs324701	0.92[ASN][1000 genomes]
rs324703	0.92[ASN][1000 genomes]
rs324712	0.92[ASN][1000 genomes]
rs324713	0.92[ASN][1000 genomes]
rs324719	0.92[ASN][1000 genomes]
rs324722	0.92[ASN][1000 genomes]
rs324723	0.92[ASN][1000 genomes]
rs324727	0.92[ASN][1000 genomes]
rs324730	0.92[ASN][1000 genomes]
rs324731	0.92[ASN][1000 genomes]
rs324733	0.92[ASN][1000 genomes]
rs324735	0.92[ASN][1000 genomes]
rs324738	0.89[ASN][1000 genomes]
rs324740	0.92[ASN][1000 genomes]
rs34855591	0.85[ASN][1000 genomes]
rs4262008	0.92[ASN][1000 genomes]
rs60225400	0.84[ASN][1000 genomes]
rs60945555	0.84[ASN][1000 genomes]
rs61603278	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531934	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827016	0.92[ASN][1000 genomes]
rs6856162	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858061	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657198	0.92[ASN][1000 genomes]
rs7663617	0.84[ASN][1000 genomes]
rs7680729	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7684778	0.84[ASN][1000 genomes]
rs7693127	0.92[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76647400-76652200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:76647400-76652600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr4:76647600-76652000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:76647600-76652200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:76648200-76652000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:76648400-76652200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:76648400-76652400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:76648600-76652200	Active TSS	Psoas Muscle	Psoas
9	chr4:76648600-76652600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:76648600-76652600	Active TSS	Aorta	Aorta
11	chr4:76648600-76653200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:76648800-76652200	Active TSS	Right Ventricle	heart
13	chr4:76648800-76652400	Active TSS	Ovary	ovary
14	chr4:76650400-76652600	Active TSS	Right Atrium	heart
15	chr4:76650800-76652200	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:76650800-76652600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:76650800-76652600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:76650800-76652600	Flanking Active TSS	HUVEC	blood vessel
19	chr4:76650800-76653200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:76650800-76658600	Weak transcription	Brain Substantia Nigra	brain
21	chr4:76650800-76673400	Weak transcription	Lung	lung
22	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
24	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:76651000-76652000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr4:76651000-76652000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:76651000-76652000	Flanking Active TSS	Fetal Lung	lung
28	chr4:76651000-76652000	Enhancers	Placenta	Placenta
29	chr4:76651000-76652000	Enhancers	Fetal Thymus	thymus
30	chr4:76651000-76652200	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr4:76651000-76652400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:76651000-76652600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:76651000-76652600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:76651000-76652800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr4:76651000-76653200	Enhancers	Primary T cells from cord blood	blood
36	chr4:76651000-76653200	Enhancers	Fetal Heart	heart
37	chr4:76651000-76653600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:76651000-76653800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:76651000-76655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:76651200-76652000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:76651200-76652000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:76651200-76652000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:76651200-76652000	Enhancers	Brain Hippocampus Middle	brain
44	chr4:76651200-76652200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:76651200-76652200	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:76651200-76652200	Enhancers	Brain Germinal Matrix	brain
47	chr4:76651200-76652200	Enhancers	Fetal Stomach	stomach
48	chr4:76651200-76652400	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:76651200-76652400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr4:76651200-76652400	Enhancers	Hela-S3	cervix

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