Variant report

Variant	rs11590812
Chromosome Location	chr1:62510584-62510585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11576777	1.00[JPT][hapmap]
rs11577828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581307	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585888	1.00[JPT][hapmap]
rs11590485	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332631	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs1363	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17122938	1.00[CHB][hapmap]
rs17122997	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17123017	1.00[CHB][hapmap]
rs17313395	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2067881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067882	1.00[CHB][hapmap]
rs2365985	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2476180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762449	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs41394744	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4325166	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915603	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915795	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56379320	0.93[ASN][1000 genomes]
rs61777663	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61777664	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61777665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61777666	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661849	1.00[JPT][hapmap]
rs6673889	1.00[JPT][hapmap]
rs6685442	1.00[JPT][hapmap]
rs6697273	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7519802	1.00[JPT][hapmap]
rs7528431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7537406	0.86[EUR][1000 genomes]
rs7537873	0.85[EUR][1000 genomes]
rs7539653	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
2	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:62459200-62511200	Weak transcription	Gastric	stomach
6	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:62460200-62516000	Weak transcription	HMEC	breast
10	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:62488400-62521200	Weak transcription	Ovary	ovary
18	chr1:62491800-62511200	Weak transcription	Psoas Muscle	Psoas
19	chr1:62494600-62511200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:62494600-62524400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:62494600-62524400	Weak transcription	Esophagus	oesophagus
22	chr1:62495000-62515200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:62495200-62516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:62495200-62544800	Weak transcription	Liver	Liver
25	chr1:62497200-62515000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:62500000-62515400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:62500400-62511200	Weak transcription	Right Ventricle	heart
28	chr1:62500800-62511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:62502200-62520600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:62503600-62520200	Weak transcription	Fetal Brain Male	brain
31	chr1:62504800-62531400	Weak transcription	Aorta	Aorta
32	chr1:62505400-62516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:62505800-62516000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:62506200-62515200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:62507000-62511000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:62507000-62511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:62507000-62512200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:62507200-62511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:62507200-62511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:62507200-62511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:62507200-62511200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:62507200-62511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:62507200-62511400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:62507200-62523000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:62507200-62523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:62507400-62511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:62507400-62511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:62507400-62512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:62507400-62524600	Weak transcription	HepG2	liver
50	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon

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