Variant report

Variant	rs12648681
Chromosome Location	chr4:186622549-186622550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186621032..186622756-chr4:186625752..186627336,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10003873	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10014999	0.86[EUR][1000 genomes]
rs12509966	0.86[EUR][1000 genomes]
rs12512174	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12640168	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28516669	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57647954	0.86[EUR][1000 genomes]
rs6552910	0.99[ASN][1000 genomes]
rs6848805	0.86[EUR][1000 genomes]
rs73876146	0.83[ASN][1000 genomes]
rs7687550	0.86[EUR][1000 genomes]
rs7687563	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186597200-186626000	Weak transcription	HepG2	liver
2	chr4:186608000-186626000	Weak transcription	HSMM	muscle
3	chr4:186611000-186625600	Weak transcription	Pancreas	Pancrea
4	chr4:186611000-186626000	Weak transcription	Gastric	stomach
5	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
6	chr4:186615000-186623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:186615800-186629000	Weak transcription	HUVEC	blood vessel
8	chr4:186618800-186626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:186620200-186626200	Enhancers	Fetal Heart	heart
10	chr4:186620800-186625600	Weak transcription	Left Ventricle	heart
11	chr4:186621000-186622600	Enhancers	Colon Smooth Muscle	Colon
12	chr4:186621000-186622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:186621400-186622800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:186621400-186622800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:186621400-186622800	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:186621400-186623800	Enhancers	Liver	Liver
17	chr4:186621600-186623400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:186621800-186622600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:186621800-186622600	Enhancers	Right Ventricle	heart
20	chr4:186622000-186623600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:186622200-186622600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:186622200-186622600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:186622200-186622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:186622200-186625800	Weak transcription	HSMMtube	muscle
26	chr4:186622200-186628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:186622400-186622600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:186622400-186622800	Enhancers	Aorta	Aorta
29	chr4:186622400-186623600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links