Variant report

Variant	rs72702246
Chromosome Location	chr4:175200217-175200218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11555602	1.00[ASN][1000 genomes]
rs14278	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17060445	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67875138	1.00[ASN][1000 genomes]
rs67936635	1.00[ASN][1000 genomes]
rs72702219	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72702220	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72702225	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72702227	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72702230	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72702234	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702236	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702242	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702249	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702250	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702258	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73009476	1.00[ASN][1000 genomes]
rs7656298	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681841	1.00[ASN][1000 genomes]
rs7692518	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
2	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
3	chr4:175154400-175202400	Weak transcription	Gastric	stomach
4	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
7	chr4:175178000-175203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:175179400-175202400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:175181000-175201600	Weak transcription	Fetal Thymus	thymus
11	chr4:175181600-175203400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:175181600-175203600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:175182200-175202600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:175184200-175202400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:175184200-175203600	Weak transcription	HSMM	muscle
16	chr4:175184400-175200800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:175184400-175202400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:175184400-175202600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:175184400-175204000	Weak transcription	Left Ventricle	heart
20	chr4:175184800-175202400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:175187800-175202200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:175188600-175201800	Weak transcription	Brain Angular Gyrus	brain
23	chr4:175188600-175202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:175188600-175203400	Weak transcription	Primary B cells from cord blood	blood
25	chr4:175188600-175204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:175188800-175200400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:175188800-175200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:175190000-175203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:175190200-175204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:175190800-175203600	Weak transcription	Fetal Stomach	stomach
31	chr4:175193000-175200800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:175195400-175201800	Weak transcription	Right Ventricle	heart
33	chr4:175195400-175202600	Weak transcription	Pancreas	Pancrea
34	chr4:175195400-175203800	Weak transcription	Placenta	Placenta
35	chr4:175195600-175202400	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:175196000-175202400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:175198600-175200400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:175198600-175200800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:175198600-175200800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:175198600-175201200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr4:175198800-175200600	Weak transcription	Fetal Lung	lung
42	chr4:175198800-175201800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr4:175198800-175201800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:175198800-175203200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:175199000-175200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:175199200-175200400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:175199200-175204000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:175199400-175203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:175199600-175202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:175199800-175200400	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links