Variant report

Variant	rs72702095
Chromosome Location	chr4:186652470-186652471
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	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28472422	1.00[ASN][1000 genomes]
rs28578545	1.00[ASN][1000 genomes]
rs28582258	1.00[ASN][1000 genomes]
rs59513672	1.00[ASN][1000 genomes]
rs72702058	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702070	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702077	1.00[AMR][1000 genomes]
rs72702080	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702082	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702088	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72702092	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715951	1.00[ASN][1000 genomes]
rs73873386	1.00[ASN][1000 genomes]
rs73873390	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
2	chr4:186642800-186657800	Weak transcription	Gastric	stomach
3	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
5	chr4:186646800-186653600	Weak transcription	HepG2	liver
6	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:186649200-186653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
9	chr4:186650200-186653600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:186650600-186652600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:186650800-186658600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:186651200-186652600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:186651200-186652600	Enhancers	Fetal Stomach	stomach
15	chr4:186651400-186652600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:186651400-186652600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:186651600-186652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:186651600-186652600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:186651600-186652800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:186651600-186652800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:186651600-186653800	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:186651600-186654200	Enhancers	Colon Smooth Muscle	Colon
23	chr4:186651800-186652600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:186651800-186652600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:186651800-186652600	Enhancers	Fetal Lung	lung
26	chr4:186651800-186652600	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:186651800-186652800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:186652000-186653200	Weak transcription	Liver	Liver
29	chr4:186652000-186653600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:186652000-186653600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:186652000-186653800	Weak transcription	Right Ventricle	heart
32	chr4:186652000-186654000	Weak transcription	Aorta	Aorta
33	chr4:186652000-186654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:186652000-186654600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:186652000-186654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:186652000-186654800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:186652000-186655600	Weak transcription	Spleen	Spleen
38	chr4:186652000-186657800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:186652000-186658000	Weak transcription	Esophagus	oesophagus
40	chr4:186652000-186658800	Weak transcription	Lung	lung
41	chr4:186652000-186659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:186652200-186652600	Weak transcription	Pancreas	Pancrea
43	chr4:186652200-186653600	Weak transcription	Left Ventricle	heart
44	chr4:186652200-186653800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:186652200-186653800	Weak transcription	Right Atrium	heart
46	chr4:186652200-186654200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:186652200-186655200	Weak transcription	HUVEC	blood vessel
48	chr4:186652200-186655600	Weak transcription	Placenta	Placenta
49	chr4:186652200-186655800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:186652200-186657400	Weak transcription	Brain Anterior Caudate	brain

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