Variant report

Variant	rs17030739
Chromosome Location	chr4:101996812-101996813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010510	1.00[ASN][1000 genomes]
rs10013584	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026214	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030741	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030745	1.00[ASN][1000 genomes]
rs17030746	1.00[ASN][1000 genomes]
rs17030753	1.00[ASN][1000 genomes]
rs17232534	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17828764	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs17829004	1.00[ASN][1000 genomes]
rs28380231	1.00[ASN][1000 genomes]
rs28462362	1.00[ASN][1000 genomes]
rs28567730	1.00[ASN][1000 genomes]
rs28692933	0.85[EUR][1000 genomes]
rs28802902	1.00[ASN][1000 genomes]
rs3729663	0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs72681037	1.00[ASN][1000 genomes]
rs72681038	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307252	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990461	0.81[CEU][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs9990811	0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs9991118	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991245	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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 miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879669	chr4:101989816-102040091	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879670	chr4:101989816-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
6	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
7	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:101959600-102003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:101960800-102004000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:101960800-102004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:101961000-102024600	Weak transcription	NHEK	skin
15	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
16	chr4:101962200-102000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:101966600-102003000	Weak transcription	Primary T cells from cord blood	blood
18	chr4:101966600-102007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:101966800-102007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:101971800-102000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:101978000-101997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
23	chr4:101978200-102002600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:101978400-102023000	Weak transcription	NHLF	lung
25	chr4:101979400-101997200	Weak transcription	Liver	Liver
26	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
27	chr4:101980800-102004600	Strong transcription	Primary B cells from cord blood	blood
28	chr4:101981600-102010600	Weak transcription	Aorta	Aorta
29	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:101982000-102023000	Weak transcription	Osteobl	bone
31	chr4:101982200-102005200	Weak transcription	A549	lung
32	chr4:101982400-102002000	Weak transcription	Dnd41	blood
33	chr4:101982400-102003200	Weak transcription	Adipose Nuclei	Adipose
34	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:101984600-102003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:101986000-102010200	Weak transcription	Psoas Muscle	Psoas
37	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
38	chr4:101988000-102010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:101988200-102024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:101988400-101997600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:101988400-102023800	Weak transcription	Fetal Kidney	kidney
42	chr4:101988600-101997600	Weak transcription	Brain Angular Gyrus	brain
43	chr4:101988600-102004200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:101989400-102024600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:101989600-101997400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:101989600-101997600	Weak transcription	Brain Anterior Caudate	brain
47	chr4:101989600-102003200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:101990000-102014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:101991400-102000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:101991800-102015600	Weak transcription	Placenta	Placenta

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