Variant report

Variant	rs1819472
Chromosome Location	chr1:62457978-62457979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11207882	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207883	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207884	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207886	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207887	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207888	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207889	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207890	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207891	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1134767	0.88[ASN][1000 genomes]
rs12057791	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12059388	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12062458	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12063314	0.86[EUR][1000 genomes]
rs12070043	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12070711	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12090390	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12092770	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12093140	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12093181	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12093218	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12093294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12095704	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12563257	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12564151	0.86[EUR][1000 genomes]
rs12564318	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12567320	0.86[EUR][1000 genomes]
rs12728194	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12730210	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12730586	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12742283	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12742445	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12742700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12746542	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12746718	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12746805	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1556486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17122891	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17122903	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35266608	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6587951	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6670928	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6671315	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6678093	0.85[EUR][1000 genomes]
rs6684445	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6686958	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67803708	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7354833	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7521526	0.82[EUR][1000 genomes]
rs7545272	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs885581	0.88[ASN][1000 genomes]
rs944706	0.87[AMR][1000 genomes];0.90[EUR][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:50 , 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	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
5	chr1:62441400-62459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:62442000-62458400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:62446600-62458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:62446600-62465200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:62446600-62487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:62446800-62458200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:62446800-62469400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:62447000-62458200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:62447000-62459000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:62447200-62469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:62447400-62481200	Weak transcription	Lung	lung
17	chr1:62448200-62458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:62448400-62470400	Weak transcription	Ovary	ovary
19	chr1:62448600-62459000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:62453400-62460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:62453600-62461400	Weak transcription	Psoas Muscle	Psoas
22	chr1:62454400-62458000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:62455200-62460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:62455200-62463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:62455600-62458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:62455600-62458200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:62456000-62459000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:62456000-62459600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:62456200-62478600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:62456400-62458400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:62456600-62459200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:62456800-62459000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:62456800-62459000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:62456800-62459600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:62456800-62459800	Enhancers	NHEK	skin
36	chr1:62457000-62458800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:62457000-62459000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:62457000-62459400	Strong transcription	Liver	Liver
39	chr1:62457000-62460000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:62457000-62460000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:62457000-62460000	Strong transcription	Fetal Intestine Large	intestine
42	chr1:62457000-62473400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:62457200-62459200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:62457400-62458200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:62457400-62458600	Weak transcription	Fetal Kidney	kidney
46	chr1:62457400-62458600	Weak transcription	Left Ventricle	heart
47	chr1:62457400-62458800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:62457400-62459800	Weak transcription	Adipose Nuclei	Adipose
49	chr1:62457400-62460000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:62457600-62458000	Weak transcription	HMEC	breast

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