Variant report

Variant	rs4705624
Chromosome Location	chr5:112095775-112095776
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10051624	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10071425	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10072068	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10073398	0.85[EUR][1000 genomes]
rs10075281	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10075323	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10075377	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10076641	0.81[EUR][1000 genomes]
rs10213844	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10477483	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11241182	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11241183	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241184	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241185	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11749701	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11954856	0.86[EUR][1000 genomes]
rs12332692	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12513787	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12518091	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12658609	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12659119	0.86[EUR][1000 genomes]
rs13156251	0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13173990	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1441367	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1465910	0.81[EUR][1000 genomes]
rs1530256	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs153549	0.80[CHB][hapmap]
rs17285505	0.83[EUR][1000 genomes]
rs1816769	0.84[EUR][1000 genomes]
rs1866924	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs1914	0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1968557	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs1974786	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2019720	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2020383	0.84[EUR][1000 genomes]
rs2099810	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2229992	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2251913	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2253987	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2289484	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2431239	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2431241	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2431242	0.84[EUR][1000 genomes]
rs2431512	0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2431514	0.82[AMR][1000 genomes]
rs2439589	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2439595	0.95[CHB][hapmap];1.00[YRI][hapmap]
rs2464803	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545158	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2546106	0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2546107	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2546108	0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2546110	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2546112	0.95[CHB][hapmap];1.00[YRI][hapmap]
rs2546115	0.84[CHB][hapmap]
rs2546117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2707763	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707765	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28373740	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28578275	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901844	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35130225	0.84[EUR][1000 genomes]
rs351768	0.80[CHB][hapmap]
rs351770	0.80[CHB][hapmap]
rs351772	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35414976	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs374613	0.89[CHB][hapmap]
rs382427	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs390092	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs395858	0.88[CHB][hapmap]
rs396321	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4099181	0.86[EUR][1000 genomes]
rs41116	0.85[EUR][1000 genomes]
rs414098	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs448162	0.89[CHB][hapmap]
rs448475	0.85[EUR][1000 genomes]
rs454886	0.95[CHB][hapmap]
rs458906	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460137	0.84[CHB][hapmap]
rs467033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs469886	0.80[CHB][hapmap]
rs4705486	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705559	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4705573	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705608	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705609	0.82[EUR][1000 genomes]
rs4705610	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs495794	0.80[CHB][hapmap]
rs511906	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs514763	0.80[CHB][hapmap]
rs518013	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs548710	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs566419	0.90[CHB][hapmap]
rs62364017	0.88[EUR][1000 genomes]
rs6594646	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6862050	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6864688	0.87[EUR][1000 genomes]
rs6867243	0.86[EUR][1000 genomes]
rs6879057	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894351	0.81[EUR][1000 genomes]
rs7213	0.80[CHB][hapmap]
rs7704618	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7727738	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs818428	0.80[CHB][hapmap]
rs818797	0.80[CHB][hapmap]
rs861674	0.82[EUR][1000 genomes]
rs9326862	0.84[EUR][1000 genomes]
rs9326863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9647582	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9647583	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
3	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
4	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112074800-112097600	Weak transcription	HMEC	breast
9	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:112075400-112097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112075400-112101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:112075600-112095800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:112076200-112097000	Weak transcription	NHLF	lung
14	chr5:112078000-112095800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:112078600-112095800	Weak transcription	GM12878-XiMat	blood
16	chr5:112078800-112097200	Weak transcription	NHDF-Ad	bronchial
17	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
19	chr5:112080200-112095800	Weak transcription	K562	blood
20	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:112084400-112103000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:112084600-112103200	Weak transcription	Psoas Muscle	Psoas
23	chr5:112084800-112101000	Weak transcription	Pancreas	Pancrea
24	chr5:112087200-112098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:112087600-112117600	Weak transcription	Gastric	stomach
26	chr5:112088200-112095800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:112089200-112095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:112089400-112095800	Weak transcription	Fetal Lung	lung
29	chr5:112089400-112099400	Weak transcription	Fetal Intestine Large	intestine
30	chr5:112089800-112095800	Weak transcription	HSMMtube	muscle
31	chr5:112089800-112116600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:112090000-112097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:112090400-112098400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:112091200-112097800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:112091400-112095800	Weak transcription	Primary T cells from cord blood	blood
36	chr5:112091400-112095800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:112091800-112095800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:112091800-112095800	Weak transcription	Fetal Brain Female	brain
39	chr5:112092800-112097800	Weak transcription	Fetal Brain Male	brain
40	chr5:112093000-112095800	Weak transcription	HSMM	muscle
41	chr5:112093400-112095800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:112093400-112095800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:112093400-112095800	Weak transcription	Adipose Nuclei	Adipose
44	chr5:112093400-112095800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:112093400-112095800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:112093400-112095800	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:112093400-112097400	Weak transcription	Osteobl	bone
48	chr5:112093400-112097800	Weak transcription	Aorta	Aorta
49	chr5:112093400-112102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:112093400-112103200	Weak transcription	H1 Cell Line	embryonic stem cell

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