Variant report

Variant	rs12705308
Chromosome Location	chr7:105004968-105004969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227302	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241415	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249170	0.80[ASN][1000 genomes]
rs10277120	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10281422	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10281886	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953470	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953474	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1121194	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761429	0.87[ASN][1000 genomes]
rs11765899	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1204056	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1204058	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204060	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204066	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204077	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1204078	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204080	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334245	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666949	0.80[ASN][1000 genomes]
rs12668097	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671047	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705304	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12705306	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13226540	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13238191	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13239067	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17721991	0.80[ASN][1000 genomes]
rs2030776	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040913	0.80[ASN][1000 genomes]
rs2040914	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057883	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057884	0.84[EUR][1000 genomes]
rs2237613	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2240463	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299308	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299319	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34387062	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35601145	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35757884	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35851667	0.89[ASN][1000 genomes]
rs3779210	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801278	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801281	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801282	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801285	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801999	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41562	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41563	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4496901	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4727621	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730072	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4730073	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730080	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730081	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730082	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62484712	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466053	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466055	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6466056	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6466057	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466064	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66599006	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6943183	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6952386	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6962856	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357199	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789569	0.95[ASN][1000 genomes]
rs7800928	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801804	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7806591	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811681	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917114	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9640686	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9649275	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104993600-105008800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:104995000-105009000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:104995200-105005000	Weak transcription	Left Ventricle	heart
4	chr7:104995200-105006400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:104995200-105007800	Weak transcription	HSMM	muscle
6	chr7:104995200-105009000	Weak transcription	Right Atrium	heart
7	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
8	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:104995800-105007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
12	chr7:104996000-105008800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:104996400-105005200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:104996400-105017000	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:104996800-105005200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:104996800-105008800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:104996800-105008800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:104997400-105007400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:104997400-105007400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:104997400-105013000	Weak transcription	Dnd41	blood
21	chr7:104997400-105026800	Weak transcription	Primary B cells from cord blood	blood
22	chr7:104999600-105005000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:104999600-105009000	Weak transcription	Psoas Muscle	Psoas
24	chr7:104999800-105007600	Weak transcription	Pancreas	Pancrea
25	chr7:104999800-105010000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:105000000-105005200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:105000000-105005400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:105000000-105009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:105000000-105018000	Weak transcription	Lung	lung
30	chr7:105000000-105021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:105000000-105028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:105000200-105005200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:105000200-105005200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:105000200-105005200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:105000200-105005200	Weak transcription	HepG2	liver
36	chr7:105000200-105007600	Weak transcription	Gastric	stomach
37	chr7:105000200-105025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:105000400-105006000	Weak transcription	K562	blood
39	chr7:105001600-105005200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:105003200-105027600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:105003600-105025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:105003800-105008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:105004600-105010600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:105004800-105005000	Enhancers	Aorta	Aorta
45	chr7:105004800-105005400	Enhancers	H9 Cell Line	embryonic stem cell

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