Variant report

Variant	rs73237086
Chromosome Location	chr4:47531688-47531689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10027156	1.00[ASN][1000 genomes]
rs28647985	1.00[ASN][1000 genomes]
rs4362797	0.86[ASN][1000 genomes]
rs4423850	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467534	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467535	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4475121	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599383	0.86[ASN][1000 genomes]
rs4694851	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695239	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695243	1.00[ASN][1000 genomes]
rs6447564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837171	0.86[ASN][1000 genomes]
rs6837743	1.00[ASN][1000 genomes]
rs6842769	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857999	0.96[EUR][1000 genomes]
rs73237050	1.00[ASN][1000 genomes]
rs73237070	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237074	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237078	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237081	1.00[ASN][1000 genomes]
rs73237082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237083	1.00[ASN][1000 genomes]
rs73237084	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237085	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237087	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237088	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237089	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237090	1.00[ASN][1000 genomes]
rs73237091	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674353	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999398	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv528326	chr4:47525054-47533838	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879006	chr4:47525054-47555196	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
3	chr4:47489200-47533600	Weak transcription	Esophagus	oesophagus
4	chr4:47502200-47533000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:47512200-47536800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
7	chr4:47512800-47532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:47513600-47533200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:47513800-47534000	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:47514000-47551000	Weak transcription	Gastric	stomach
11	chr4:47514200-47533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:47515800-47533800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:47515800-47533800	Weak transcription	Lung	lung
14	chr4:47516000-47534000	Weak transcription	Stomach Mucosa	stomach
15	chr4:47516400-47547800	Weak transcription	Ovary	ovary
16	chr4:47516400-47548200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:47518000-47544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:47520400-47533600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:47521800-47532800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:47521800-47533200	Weak transcription	Spleen	Spleen
21	chr4:47522000-47533000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:47522400-47533400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr4:47523000-47532400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:47525200-47533800	Weak transcription	Fetal Stomach	stomach
25	chr4:47525200-47540600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:47525200-47544000	Weak transcription	Fetal Intestine Small	intestine
27	chr4:47526200-47533200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:47526200-47534000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:47526400-47559800	Weak transcription	Pancreas	Pancrea
30	chr4:47526600-47533200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:47526600-47533800	Weak transcription	Left Ventricle	heart
32	chr4:47528000-47532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:47528000-47533400	Weak transcription	Aorta	Aorta
34	chr4:47528000-47538400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:47528600-47533400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:47528800-47533000	Weak transcription	Hela-S3	cervix
37	chr4:47529000-47532200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:47529000-47532200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:47529000-47533000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:47529400-47532800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:47529800-47532800	Genic enhancers	HSMM	muscle
42	chr4:47529800-47533000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:47530000-47532600	Weak transcription	HUVEC	blood vessel
44	chr4:47530200-47533000	Weak transcription	Primary T cells from cord blood	blood
45	chr4:47530200-47536400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:47530400-47532200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:47530400-47536600	Enhancers	HMEC	breast
48	chr4:47530600-47532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:47530600-47533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:47530800-47532000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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