Variant report

Variant	rs2648111
Chromosome Location	chr4:186791524-186791525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10001944	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10002028	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13112022	0.85[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap]
rs2603722	0.85[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2603724	0.90[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2648107	0.89[CHB][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2648112	0.90[YRI][hapmap]
rs2648117	0.85[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs2648121	0.81[ASN][1000 genomes]
rs4861686	0.85[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4862579	0.84[ASN][1000 genomes]
rs4862580	0.85[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs6552931	0.86[ASN][1000 genomes]
rs6552932	0.86[ASN][1000 genomes]
rs6552935	0.80[YRI][hapmap]
rs7674855	0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7675409	0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs9994907	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9995677	0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][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	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
2	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
3	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
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186771600-186791600	Weak transcription	Right Atrium	heart
2	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
3	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
5	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:186789000-186795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:186789800-186791600	Enhancers	HSMMtube	muscle
9	chr4:186790000-186791600	Enhancers	Liver	Liver
10	chr4:186790000-186792200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:186790200-186792000	Enhancers	Fetal Brain Female	brain
12	chr4:186790400-186792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:186790600-186791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:186790600-186791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:186790600-186791600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:186790600-186791800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:186790600-186792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:186790600-186792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:186790600-186792000	Enhancers	Fetal Brain Male	brain
20	chr4:186790600-186792200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:186790600-186795400	Weak transcription	Osteobl	bone
22	chr4:186791000-186791600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:186791000-186795400	Weak transcription	Hela-S3	cervix
24	chr4:186791000-186799600	Weak transcription	Left Ventricle	heart
25	chr4:186791000-186799800	Weak transcription	Pancreas	Pancrea
26	chr4:186791200-186791600	Active TSS	Brain Substantia Nigra	brain
27	chr4:186791400-186791600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:186791400-186791600	Active TSS	Brain Hippocampus Middle	brain
29	chr4:186791400-186791600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:186791400-186791800	Active TSS	Brain Anterior Caudate	brain
31	chr4:186791400-186791800	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:186791400-186791800	Active TSS	Right Ventricle	heart
33	chr4:186791400-186792000	Enhancers	Brain Angular Gyrus	brain
34	chr4:186791400-186794000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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