Variant report

Variant	rs1712762
Chromosome Location	chr4:48644774-48644775
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	chr4:48644058..48646870-chr4:48657277..48658947,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10034207	0.84[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs10049760	0.84[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs10517225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10805172	1.00[YRI][hapmap]
rs11727472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498166	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506770	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507475	1.00[YRI][hapmap]
rs12508327	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13110719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1517675	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1517676	0.84[AFR][1000 genomes]
rs1533511	1.00[YRI][hapmap]
rs1565218	0.91[ASN][1000 genomes]
rs16861344	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1702795	0.86[AMR][1000 genomes]
rs1702799	1.00[YRI][hapmap]
rs1702800	0.86[ASW][hapmap];1.00[ASN][1000 genomes]
rs1712771	0.84[AFR][1000 genomes]
rs17609740	1.00[ASN][1000 genomes]
rs17609761	1.00[ASN][1000 genomes]
rs17656189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.82[AMR][1000 genomes]
rs1850520	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138866	0.84[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs2304387	1.00[CHB][hapmap];0.85[TSI][hapmap]
rs2354939	0.82[YRI][hapmap]
rs28581223	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2940319	0.84[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs2945331	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235155	1.00[YRI][hapmap]
rs4235156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694898	1.00[YRI][hapmap]
rs4695388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4695390	1.00[YRI][hapmap]
rs4695406	0.82[YRI][hapmap]
rs55730515	0.91[ASN][1000 genomes]
rs55884608	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.91[ASN][1000 genomes]
rs57893769	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447643	1.00[YRI][hapmap]
rs6447646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835757	1.00[YRI][hapmap]
rs6852840	0.91[ASN][1000 genomes]
rs6853876	1.00[YRI][hapmap]
rs707719	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.91[ASN][1000 genomes]
rs73814763	0.91[ASN][1000 genomes]
rs73814782	1.00[ASN][1000 genomes]
rs73814798	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689293	1.00[YRI][hapmap]
rs7690681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.91[ASN][1000 genomes]
rs7695730	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698064	1.00[YRI][hapmap]
rs776581	1.00[ASW][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs776582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776583	1.00[YRI][hapmap]
rs776586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776595	0.82[YRI][hapmap]
rs776596	0.86[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776597	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938791	1.00[YRI][hapmap]
rs9994214	1.00[YRI][hapmap]
rs9998178	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48606800-48645000	Weak transcription	Gastric	stomach
2	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
3	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
4	chr4:48621800-48645000	Weak transcription	Lung	lung
5	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
6	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:48627200-48645000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:48632200-48644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:48635200-48644800	Weak transcription	Aorta	Aorta
13	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
14	chr4:48635200-48655000	Weak transcription	Dnd41	blood
15	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:48637800-48644800	Weak transcription	Small Intestine	intestine
17	chr4:48637800-48644800	Weak transcription	NHLF	lung
18	chr4:48637800-48645000	Weak transcription	Left Ventricle	heart
19	chr4:48637800-48652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:48637800-48653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48638000-48647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:48638000-48651600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:48638000-48653800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:48638000-48655400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:48638000-48655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:48638400-48645000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:48638600-48652400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr4:48638600-48655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48639400-48653400	Weak transcription	HMEC	breast
36	chr4:48639600-48647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:48639600-48652200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:48641600-48645400	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:48642000-48644800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr4:48642000-48645000	Enhancers	Brain Substantia Nigra	brain
41	chr4:48642000-48645600	Enhancers	Adipose Nuclei	Adipose
42	chr4:48642200-48644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:48642200-48647200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:48642200-48654800	Weak transcription	Stomach Mucosa	stomach
45	chr4:48642400-48645600	Enhancers	Fetal Heart	heart
46	chr4:48642400-48647400	Weak transcription	NHEK	skin
47	chr4:48643000-48644800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:48643000-48645000	Weak transcription	NHDF-Ad	bronchial
49	chr4:48643000-48645200	Enhancers	HSMMtube	muscle
50	chr4:48643000-48647200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links