Variant report

Variant	rs487207
Chromosome Location	chr11:74534684-74534685
allele	A/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:83)

rs_ID	r²[population]
rs10899043	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11236255	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1125609	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs113187	0.94[ASN][1000 genomes]
rs11827626	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223829	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1282668	0.87[ASN][1000 genomes]
rs1282675	0.93[ASN][1000 genomes]
rs1282677	0.93[ASN][1000 genomes]
rs1315265	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1315299	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1821352	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866562	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436762	0.84[ASN][1000 genomes]
rs2510692	0.93[ASN][1000 genomes]
rs3132738	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3132908	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs474431	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs474445	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474970	0.84[ASN][1000 genomes]
rs476040	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs483271	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs487226	0.81[ASN][1000 genomes]
rs491826	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493889	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs496698	0.84[ASN][1000 genomes]
rs498527	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs500827	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503855	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503994	0.85[ASN][1000 genomes]
rs504970	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs507247	0.84[ASN][1000 genomes]
rs507620	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs512782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs513157	0.84[ASN][1000 genomes]
rs514534	0.84[ASN][1000 genomes]
rs516287	0.96[ASN][1000 genomes]
rs517035	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs517666	0.96[ASN][1000 genomes]
rs517939	0.84[ASN][1000 genomes]
rs524187	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs525802	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs527099	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs527661	0.84[ASN][1000 genomes]
rs528800	0.86[ASN][1000 genomes]
rs529186	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs533220	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs534595	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs535705	0.96[ASN][1000 genomes]
rs536823	0.94[ASN][1000 genomes]
rs544852	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544891	0.96[ASN][1000 genomes]
rs545202	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs545304	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs548106	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs550909	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556908	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs556916	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs557804	0.84[ASN][1000 genomes]
rs558303	0.84[ASN][1000 genomes]
rs559211	0.96[ASN][1000 genomes]
rs563473	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs564229	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs571250	0.84[ASN][1000 genomes]
rs571437	0.96[ASN][1000 genomes]
rs575064	0.84[ASN][1000 genomes]
rs575886	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs576661	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs578477	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579581	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580042	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580299	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580541	0.94[ASN][1000 genomes]
rs592045	0.93[ASN][1000 genomes]
rs605954	0.94[ASN][1000 genomes]
rs633824	0.92[ASN][1000 genomes]
rs650130	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655488	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs662062	0.95[ASN][1000 genomes]
rs670246	0.81[ASN][1000 genomes]
rs673731	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
5	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
3	chr11:74520600-74534800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:74520800-74537800	Weak transcription	Colonic Mucosa	Colon
5	chr11:74524800-74535800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:74527200-74534800	Strong transcription	Fetal Intestine Large	intestine
7	chr11:74527800-74534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:74528000-74576400	Weak transcription	Stomach Mucosa	stomach
9	chr11:74528400-74535000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:74528400-74535600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:74528800-74537800	Weak transcription	Lung	lung
12	chr11:74529800-74537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:74530000-74536400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:74530200-74534800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:74530200-74535400	Weak transcription	Fetal Brain Female	brain
16	chr11:74530200-74535800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:74530400-74537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:74530600-74534800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:74530600-74536800	Weak transcription	Placenta	Placenta
20	chr11:74530800-74535200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:74531600-74542400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:74531800-74540800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:74532000-74535400	Weak transcription	HSMM	muscle
24	chr11:74532000-74537200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:74532000-74538000	Weak transcription	Hela-S3	cervix
26	chr11:74532200-74537000	Weak transcription	Fetal Thymus	thymus
27	chr11:74532200-74537400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:74532200-74537800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:74532200-74537800	Weak transcription	HMEC	breast
30	chr11:74532400-74534800	Weak transcription	NHEK	skin
31	chr11:74532600-74541000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:74532800-74536000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr11:74532800-74538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:74533000-74534800	Genic enhancers	Fetal Stomach	stomach
35	chr11:74533000-74536200	ZNF genes & repeats	K562	blood
36	chr11:74533000-74537400	Strong transcription	Liver	Liver
37	chr11:74533000-74539000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr11:74533000-74540800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr11:74533000-74543000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:74533200-74534800	Strong transcription	Thymus	Thymus
41	chr11:74533200-74535400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:74533200-74535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:74533200-74537200	Weak transcription	Esophagus	oesophagus
44	chr11:74533200-74539800	ZNF genes & repeats	Dnd41	blood
45	chr11:74533400-74535400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:74533400-74536600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:74533400-74537200	Weak transcription	Ovary	ovary
48	chr11:74533400-74537600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:74533400-74537800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:74533400-74537800	Weak transcription	Spleen	Spleen

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