Variant report

Variant	rs12751120
Chromosome Location	chr1:62465515-62465516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11207882	0.83[EUR][1000 genomes]
rs11207886	0.86[EUR][1000 genomes]
rs11207887	0.81[EUR][1000 genomes]
rs11207889	0.82[EUR][1000 genomes]
rs11207890	0.82[EUR][1000 genomes]
rs12057791	0.83[EUR][1000 genomes]
rs12059237	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12059388	0.85[EUR][1000 genomes]
rs12059478	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12062458	0.85[EUR][1000 genomes]
rs12063314	0.86[EUR][1000 genomes]
rs12070043	0.85[EUR][1000 genomes]
rs12070711	0.86[EUR][1000 genomes]
rs12090332	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12090390	0.85[EUR][1000 genomes]
rs12092770	0.83[EUR][1000 genomes]
rs12093140	0.86[EUR][1000 genomes]
rs12093181	0.81[EUR][1000 genomes]
rs12095704	0.85[EUR][1000 genomes]
rs12564151	0.86[EUR][1000 genomes]
rs12564318	0.86[EUR][1000 genomes]
rs12567320	0.86[EUR][1000 genomes]
rs12730210	0.86[EUR][1000 genomes]
rs12730586	0.85[EUR][1000 genomes]
rs12731388	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12731402	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738266	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12742445	0.84[EUR][1000 genomes]
rs12745141	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748935	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749323	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12749575	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12749947	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12753261	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12756068	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12756605	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756896	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1556482	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1556483	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1556484	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1556485	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17122891	0.83[EUR][1000 genomes]
rs17122903	0.81[EUR][1000 genomes]
rs17382499	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17386553	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2067506	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365737	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886448	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115734	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34348666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34394793	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34781650	0.85[ASN][1000 genomes]
rs34935930	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34986631	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35177982	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35266608	0.81[EUR][1000 genomes]
rs35393759	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35402181	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411216	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35523060	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35597240	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35663562	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35702885	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36100977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762447	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56033850	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66472440	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6671315	0.86[EUR][1000 genomes]
rs6678093	0.84[EUR][1000 genomes]
rs6678412	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6684445	0.86[EUR][1000 genomes]
rs6685239	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6686958	0.85[EUR][1000 genomes]
rs6690451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67187546	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67439419	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67562032	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67695689	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677918	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72677920	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677923	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677926	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7517453	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7521526	0.85[EUR][1000 genomes]
rs7526627	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7526836	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539547	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543658	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7543741	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7546476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659713	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2753481	chr1:62424207-62478878	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv546416	chr1:62437872-62492215	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1005178	chr1:62439219-62468653	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv999481	chr1:62439219-62472591	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
3	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
4	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62446600-62487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:62446800-62469400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:62447200-62469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:62447400-62481200	Weak transcription	Lung	lung
9	chr1:62448400-62470400	Weak transcription	Ovary	ovary
10	chr1:62456200-62478600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:62457000-62473400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:62459000-62484000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:62459200-62487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:62459200-62511200	Weak transcription	Gastric	stomach
18	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:62459400-62479000	Weak transcription	Left Ventricle	heart
20	chr1:62459400-62484000	Weak transcription	Liver	Liver
21	chr1:62459400-62493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62459600-62478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:62459600-62483600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:62459600-62494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:62459800-62483600	Weak transcription	NHEK	skin
26	chr1:62460000-62468600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:62460000-62478600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:62460200-62487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:62460200-62516000	Weak transcription	HMEC	breast
33	chr1:62461800-62479000	Weak transcription	Psoas Muscle	Psoas
34	chr1:62463200-62472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:62464800-62465800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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