Variant report

Variant	rs10510758
Chromosome Location	chr3:51441667-51441668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51435693..51438159-chr3:51439677..51442698,3	K562	blood:
2	chr3:51440734..51444563-chr3:51445176..51449040,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10510757	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485610	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487426	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487468	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12489219	0.83[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs12489414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12490471	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12490889	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12491048	0.98[ASN][1000 genomes]
rs12492624	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493265	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12493618	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493857	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493978	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494462	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12494979	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13090348	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1370124	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051811	0.89[ASN][1000 genomes]
rs17661242	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17712228	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842394	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033703	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061949	0.94[MEX][hapmap]
rs2082992	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2082993	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2101056	0.82[CHB][hapmap]
rs2170177	0.83[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.80[ASN][1000 genomes]
rs2217938	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241785	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306430	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306431	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2356261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356298	0.94[ASN][1000 genomes]
rs35536327	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3749317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828395	0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4468966	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687553	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4687563	0.91[ASN][1000 genomes]
rs4687601	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687605	0.94[ASN][1000 genomes]
rs4687610	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687656	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4687691	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687731	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687777	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687794	0.91[ASN][1000 genomes]
rs4687803	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4687804	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4687811	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687812	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687813	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4974096	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4974098	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974112	0.83[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs55667499	0.92[ASN][1000 genomes]
rs55671465	0.85[ASN][1000 genomes]
rs56239081	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56729479	0.94[ASN][1000 genomes]
rs57027950	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57047724	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57603251	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57700326	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57831708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58059174	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58189274	0.82[ASN][1000 genomes]
rs58201844	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58568178	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58836277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59563413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59838596	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59953568	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606339	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61233013	0.91[ASN][1000 genomes]
rs61419317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61689323	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72945708	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72945713	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72951443	0.92[ASN][1000 genomes]
rs73834252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73834253	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834254	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834258	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73837435	0.94[AFR][1000 genomes]
rs73837437	0.88[AFR][1000 genomes]
rs73837438	0.94[AFR][1000 genomes]
rs73837439	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73837442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73837443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751076	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7642698	0.92[ASN][1000 genomes]
rs880478	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9817077	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs9817872	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs9819195	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9820140	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827186	0.89[ASN][1000 genomes]
rs9829057	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs9842600	0.91[ASN][1000 genomes]
rs9843583	0.90[ASN][1000 genomes]
rs9856134	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9861019	0.86[ASN][1000 genomes]
rs9878592	0.83[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][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	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51430200-51457000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51430800-51443200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:51431400-51442400	Strong transcription	Primary B cells from cord blood	blood
4	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:51431600-51446000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:51432000-51455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:51432200-51445000	Strong transcription	Fetal Intestine Large	intestine
8	chr3:51432200-51450000	Weak transcription	Small Intestine	intestine
9	chr3:51432400-51441800	Strong transcription	HepG2	liver
10	chr3:51432400-51443200	Strong transcription	GM12878-XiMat	blood
11	chr3:51432400-51460000	Strong transcription	Liver	Liver
12	chr3:51432600-51444200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:51432800-51453000	Weak transcription	Psoas Muscle	Psoas
14	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
15	chr3:51433600-51442800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr3:51434000-51446600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:51434200-51443600	Strong transcription	Fetal Muscle Leg	muscle
19	chr3:51434200-51456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:51434200-51460200	Strong transcription	Dnd41	blood
21	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:51434400-51457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:51434600-51443600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:51434600-51450000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
26	chr3:51434800-51446200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:51434800-51447200	Weak transcription	NH-A	brain
28	chr3:51434800-51449200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:51435000-51443200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:51435200-51443000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:51435400-51444400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:51436200-51446600	Weak transcription	HSMM	muscle
35	chr3:51436400-51447800	Weak transcription	HMEC	breast
36	chr3:51436600-51451400	Weak transcription	Fetal Brain Male	brain
37	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:51436800-51449800	Weak transcription	Right Ventricle	heart
39	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:51437400-51441800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:51437600-51443000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:51437600-51443600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:51438000-51443200	Strong transcription	Adipose Nuclei	Adipose
45	chr3:51438000-51443200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr3:51438000-51446800	Weak transcription	Gastric	stomach
47	chr3:51438200-51446800	Weak transcription	Pancreas	Pancrea
48	chr3:51438800-51446400	Weak transcription	Brain Angular Gyrus	brain
49	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood

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