Variant report

Variant	rs17122891
Chromosome Location	chr1:62453523-62453524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs11207882	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207883	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11207884	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207886	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207887	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11207888	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207889	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207890	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207891	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1134767	0.92[ASN][1000 genomes]
rs12057791	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12059237	0.88[EUR][1000 genomes]
rs12059388	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12059478	0.88[EUR][1000 genomes]
rs12062458	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12063314	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12070043	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12070711	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090332	0.88[EUR][1000 genomes]
rs12090390	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12092770	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12093140	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12093181	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12093218	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12093294	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12095704	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12563257	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564151	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12564318	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12567320	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12728194	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730210	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730586	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731388	0.88[EUR][1000 genomes]
rs12731402	0.85[EUR][1000 genomes]
rs12738266	0.88[EUR][1000 genomes]
rs12742283	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12742445	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12742700	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12745141	0.85[EUR][1000 genomes]
rs12745227	0.84[EUR][1000 genomes]
rs12746542	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12746718	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12746805	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12748935	0.85[EUR][1000 genomes]
rs12749323	0.88[EUR][1000 genomes]
rs12749575	0.88[EUR][1000 genomes]
rs12749947	0.88[EUR][1000 genomes]
rs12751120	0.83[EUR][1000 genomes]
rs12753261	0.87[EUR][1000 genomes]
rs12756068	0.88[EUR][1000 genomes]
rs1556482	0.88[EUR][1000 genomes]
rs1556483	0.88[EUR][1000 genomes]
rs1556484	0.88[EUR][1000 genomes]
rs1556485	0.88[EUR][1000 genomes]
rs1556486	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122903	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17382499	0.88[EUR][1000 genomes]
rs17386553	0.88[EUR][1000 genomes]
rs1819471	0.84[ASN][1000 genomes]
rs1819472	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2067506	0.85[EUR][1000 genomes]
rs2095091	0.84[ASN][1000 genomes]
rs2365737	0.85[EUR][1000 genomes]
rs2365738	0.85[EUR][1000 genomes]
rs2886448	0.85[EUR][1000 genomes]
rs34115734	0.88[EUR][1000 genomes]
rs34348666	0.85[EUR][1000 genomes]
rs34394793	0.88[EUR][1000 genomes]
rs34935930	0.88[EUR][1000 genomes]
rs34986631	0.88[EUR][1000 genomes]
rs35177982	0.85[EUR][1000 genomes]
rs35266608	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35393759	0.85[EUR][1000 genomes]
rs35402181	0.85[EUR][1000 genomes]
rs35411216	0.88[EUR][1000 genomes]
rs35523060	0.88[EUR][1000 genomes]
rs35597240	0.85[EUR][1000 genomes]
rs35663562	0.88[EUR][1000 genomes]
rs35702885	0.88[EUR][1000 genomes]
rs36100977	0.85[EUR][1000 genomes]
rs3762447	0.88[EUR][1000 genomes]
rs56033850	0.88[EUR][1000 genomes]
rs6587951	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587953	0.83[ASN][1000 genomes]
rs66472440	0.88[EUR][1000 genomes]
rs6670928	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6671315	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678093	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6678412	0.88[EUR][1000 genomes]
rs6684445	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6685239	0.88[EUR][1000 genomes]
rs6686958	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6690451	0.85[EUR][1000 genomes]
rs67187546	0.87[EUR][1000 genomes]
rs67439419	0.88[EUR][1000 genomes]
rs67562032	0.85[EUR][1000 genomes]
rs67695689	0.87[EUR][1000 genomes]
rs67803708	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72677923	0.88[EUR][1000 genomes]
rs72677926	0.88[EUR][1000 genomes]
rs7354833	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7517453	0.88[EUR][1000 genomes]
rs7521526	0.93[EUR][1000 genomes]
rs7526627	0.88[EUR][1000 genomes]
rs7526836	0.85[EUR][1000 genomes]
rs7539547	0.85[EUR][1000 genomes]
rs7543658	0.88[EUR][1000 genomes]
rs7543741	0.88[EUR][1000 genomes]
rs7545272	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7546476	0.85[EUR][1000 genomes]
rs7556129	0.85[EUR][1000 genomes]
rs885581	0.92[ASN][1000 genomes]
rs944706	0.90[EUR][1000 genomes]
rs9659713	0.87[EUR][1000 genomes]
rs9661818	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1110	chr1:62395723-62454435	Enhancers Weak transcription 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
7	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
8	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
9	esv1813605	chr1:62433814-62453540	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1003774	chr1:62436620-62454784	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1811896	chr1:62436742-62453709	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	nsv1009926	chr1:62439219-62454784	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1011197	chr1:62439219-62457712	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	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
16	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
6	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
8	chr1:62433600-62456800	Weak transcription	NHEK	skin
9	chr1:62434000-62457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:62440400-62457000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:62440800-62457000	Weak transcription	Liver	Liver
12	chr1:62441400-62459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:62441600-62455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:62442000-62458400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:62446400-62457000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:62446600-62458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:62446600-62465200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:62446600-62487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:62446800-62458200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:62446800-62469400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:62447000-62456800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:62447000-62458200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:62447000-62459000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:62447200-62469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:62447400-62481200	Weak transcription	Lung	lung
27	chr1:62448200-62457200	Weak transcription	Left Ventricle	heart
28	chr1:62448200-62458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:62448400-62470400	Weak transcription	Ovary	ovary
30	chr1:62448600-62459000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:62451800-62457400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:62453400-62453600	Enhancers	Psoas Muscle	Psoas
33	chr1:62453400-62460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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