Variant report

Variant	rs1542847
Chromosome Location	chr4:186621179-186621180
allele	A/G
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: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10003750	0.83[ASN][1000 genomes]
rs10011292	0.82[EUR][1000 genomes]
rs10016122	0.81[EUR][1000 genomes]
rs10019263	0.81[EUR][1000 genomes]
rs11132336	0.81[EUR][1000 genomes]
rs11132337	0.81[EUR][1000 genomes]
rs11132338	0.87[EUR][1000 genomes]
rs11132339	0.82[EUR][1000 genomes]
rs1124024	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11725010	0.81[EUR][1000 genomes]
rs11733264	0.81[EUR][1000 genomes]
rs11932587	0.81[EUR][1000 genomes]
rs11937510	0.81[EUR][1000 genomes]
rs11941721	0.81[EUR][1000 genomes]
rs1540711	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1566350	0.86[EUR][1000 genomes]
rs2030143	0.81[EUR][1000 genomes]
rs2030144	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4376189	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4407549	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4640708	0.80[ASN][1000 genomes]
rs4862561	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4862566	0.82[EUR][1000 genomes]
rs6552909	0.90[ASN][1000 genomes]
rs6812761	0.81[EUR][1000 genomes]
rs6820044	0.81[EUR][1000 genomes]
rs6825114	0.81[EUR][1000 genomes]
rs6825669	0.81[EUR][1000 genomes]
rs6826210	0.81[EUR][1000 genomes]
rs6828335	0.84[ASN][1000 genomes]
rs6851734	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7340885	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7688359	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694063	0.85[EUR][1000 genomes]
rs7696530	0.97[EUR][1000 genomes];0.98[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186597200-186626000	Weak transcription	HepG2	liver
2	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:186607800-186621200	Weak transcription	Osteobl	bone
4	chr4:186607800-186621800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:186608000-186626000	Weak transcription	HSMM	muscle
6	chr4:186611000-186625600	Weak transcription	Pancreas	Pancrea
7	chr4:186611000-186626000	Weak transcription	Gastric	stomach
8	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
9	chr4:186615000-186623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:186615600-186621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:186615800-186629000	Weak transcription	HUVEC	blood vessel
12	chr4:186617000-186621400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:186617400-186621400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:186618400-186622400	Weak transcription	Aorta	Aorta
15	chr4:186618600-186621400	Weak transcription	Liver	Liver
16	chr4:186618800-186626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:186620200-186626200	Enhancers	Fetal Heart	heart
18	chr4:186620400-186622200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:186620800-186625600	Weak transcription	Left Ventricle	heart
20	chr4:186621000-186622200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:186621000-186622200	Enhancers	HSMMtube	muscle
22	chr4:186621000-186622600	Enhancers	Colon Smooth Muscle	Colon
23	chr4:186621000-186622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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