Variant report

Variant	rs17609761
Chromosome Location	chr4:48496804-48496805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10517225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932126	0.86[EUR][1000 genomes]
rs12498166	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.81[ASN][1000 genomes]
rs12506770	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508327	0.81[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];0.81[ASN][1000 genomes]
rs13110719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[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];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565218	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1565221	0.86[EUR][1000 genomes]
rs16861344	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702800	1.00[ASN][1000 genomes]
rs1712762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs17609521	0.86[EUR][1000 genomes]
rs17609535	0.86[EUR][1000 genomes]
rs17609556	0.86[EUR][1000 genomes]
rs17609614	0.86[EUR][1000 genomes]
rs17609740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655725	0.86[EUR][1000 genomes]
rs17655741	0.86[EUR][1000 genomes]
rs17656189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1850520	1.00[ASN][1000 genomes]
rs28581223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945331	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695378	0.81[EUR][1000 genomes]
rs4695388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884608	1.00[ASN][1000 genomes]
rs55986500	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56932035	0.86[EUR][1000 genomes]
rs57676508	0.86[EUR][1000 genomes]
rs57893769	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.86[EUR][1000 genomes]
rs58244627	0.86[EUR][1000 genomes]
rs58707818	0.86[EUR][1000 genomes]
rs60891069	0.86[EUR][1000 genomes]
rs6447646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6447648	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.86[EUR][1000 genomes]
rs6825104	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847014	0.86[EUR][1000 genomes]
rs6852840	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707719	1.00[ASN][1000 genomes]
rs73814762	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73814763	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73814782	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7695730	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][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];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs776593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs776594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs776596	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs776597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs776598	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48487200-48505800	Weak transcription	A549	lung
2	chr4:48492400-48500800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:48492600-48497800	Weak transcription	Aorta	Aorta
4	chr4:48492600-48510600	Weak transcription	HepG2	liver
5	chr4:48492800-48500200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:48492800-48500800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:48493600-48498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:48493600-48500800	Weak transcription	Left Ventricle	heart
9	chr4:48493600-48509200	Weak transcription	Pancreas	Pancrea
10	chr4:48493600-48510600	Weak transcription	Gastric	stomach
11	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
12	chr4:48493800-48498000	Weak transcription	HSMM	muscle
13	chr4:48493800-48499600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:48493800-48500800	Weak transcription	Ovary	ovary
15	chr4:48493800-48502800	Weak transcription	Spleen	Spleen
16	chr4:48493800-48509600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:48493800-48510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:48494000-48499000	Weak transcription	Placenta	Placenta
19	chr4:48494000-48511600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:48494000-48511800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:48494200-48497400	Weak transcription	Lung	lung
22	chr4:48494200-48498200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:48494200-48499800	Weak transcription	Adipose Nuclei	Adipose
24	chr4:48494200-48499800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:48494200-48500200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:48494200-48500800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:48494200-48509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:48494200-48510600	Weak transcription	HSMMtube	muscle
29	chr4:48494400-48497600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:48494400-48498600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:48494600-48499800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:48494600-48500400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:48494600-48501000	Weak transcription	Brain Anterior Caudate	brain
34	chr4:48494800-48499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:48494800-48500200	Weak transcription	GM12878-XiMat	blood
36	chr4:48494800-48500800	Weak transcription	Brain Angular Gyrus	brain
37	chr4:48494800-48509400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:48494800-48510600	Weak transcription	Esophagus	oesophagus
39	chr4:48495000-48499600	Weak transcription	Primary T cells from cord blood	blood
40	chr4:48495000-48499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:48495000-48499800	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:48495000-48499800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:48495000-48501400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:48495000-48510000	Weak transcription	Brain Germinal Matrix	brain
45	chr4:48495200-48498000	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:48495200-48500000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:48495200-48500000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:48495200-48500200	Weak transcription	Liver	Liver
49	chr4:48495200-48500200	Weak transcription	HMEC	breast
50	chr4:48495200-48500800	Weak transcription	Stomach Smooth Muscle	stomach

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