Variant report

Variant	rs6833975
Chromosome Location	chr4:186770087-186770088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10213407	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1027525	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10866285	0.88[EUR][1000 genomes]
rs11132356	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11934426	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11934935	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11940307	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13104167	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869623	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1960151	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2133377	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173478	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2310366	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2603734	0.83[EUR][1000 genomes]
rs2603735	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2648120	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2648122	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2648123	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3796646	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5006592	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56223023	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6552928	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833174	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834169	0.90[EUR][1000 genomes]
rs6835880	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846833	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6848278	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7658732	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7660468	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7682191	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7693173	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	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	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
6	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
7	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186761200-186778400	Weak transcription	Aorta	Aorta
2	chr4:186768600-186772200	Enhancers	Fetal Brain Male	brain
3	chr4:186769000-186770200	Weak transcription	Adipose Nuclei	Adipose
4	chr4:186769000-186770200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:186769000-186770800	Weak transcription	Fetal Lung	lung
6	chr4:186769000-186770800	Weak transcription	Fetal Stomach	stomach
7	chr4:186769000-186771800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:186769000-186780400	Weak transcription	Pancreas	Pancrea
9	chr4:186769200-186770200	Enhancers	Hela-S3	cervix
10	chr4:186769200-186770600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:186769200-186770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:186769200-186771200	Enhancers	Fetal Heart	heart
13	chr4:186769200-186771600	Enhancers	HSMM	muscle
14	chr4:186769200-186779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:186769400-186770200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:186769400-186770200	Weak transcription	Placenta	Placenta
17	chr4:186769400-186770400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:186769400-186771000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:186769400-186771000	Weak transcription	NHDF-Ad	bronchial
20	chr4:186769400-186771000	Weak transcription	NHEK	skin
21	chr4:186769400-186771200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:186769400-186771400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:186769400-186772200	Enhancers	HSMMtube	muscle
24	chr4:186769400-186772800	Weak transcription	Right Ventricle	heart
25	chr4:186769600-186770200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:186770000-186771200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:186770000-186771200	Weak transcription	Left Ventricle	heart
28	chr4:186770000-186771600	Enhancers	Right Atrium	heart

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