Variant report

Variant	rs2648115
Chromosome Location	chr4:186788809-186788810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1027525	0.81[EUR][1000 genomes]
rs11934426	0.80[EUR][1000 genomes]
rs1869623	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1960151	0.81[EUR][1000 genomes]
rs2310366	0.89[EUR][1000 genomes]
rs2603734	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2603735	0.87[EUR][1000 genomes]
rs2648116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2648120	0.87[EUR][1000 genomes]
rs2648122	0.86[EUR][1000 genomes]
rs2648123	0.86[EUR][1000 genomes]
rs5006592	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56223023	0.89[EUR][1000 genomes]
rs6834169	0.89[EUR][1000 genomes]
rs6846833	0.89[EUR][1000 genomes]
rs7658732	0.80[EUR][1000 genomes]
rs7660468	0.81[EUR][1000 genomes]
rs7682191	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186771600-186791600	Weak transcription	Right Atrium	heart
2	chr4:186784200-186791400	Weak transcription	Right Ventricle	heart
3	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
4	chr4:186786600-186790000	Weak transcription	Left Ventricle	heart
5	chr4:186787000-186790000	Weak transcription	Stomach Mucosa	stomach
6	chr4:186787200-186790400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:186787400-186789800	Weak transcription	Pancreas	Pancrea
8	chr4:186787400-186790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:186787400-186790600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:186787600-186790000	Weak transcription	Osteobl	bone
11	chr4:186787600-186790200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:186787600-186790200	Weak transcription	Fetal Brain Female	brain
13	chr4:186787600-186790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:186787800-186789800	Weak transcription	HSMM	muscle
15	chr4:186787800-186789800	Weak transcription	HSMMtube	muscle
16	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:186788000-186790000	Weak transcription	Liver	Liver
18	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
19	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:186788600-186789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:186788600-186789200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:186788800-186789000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:186788800-186789000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:186788800-186789000	Enhancers	Spleen	Spleen
25	chr4:186788800-186789200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:186788800-186789200	Enhancers	Fetal Stomach	stomach

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