Variant report

Variant	rs12462159
Chromosome Location	chr19:36548546-36548547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1009381	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10406862	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10419924	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10420345	0.89[ASN][1000 genomes]
rs10421377	0.83[ASN][1000 genomes]
rs10422055	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10425700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10427033	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11538454	1.00[ASN][1000 genomes]
rs11666192	0.93[ASN][1000 genomes]
rs11669890	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12608517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981698	1.00[CHB][hapmap]
rs2023866	0.88[ASN][1000 genomes]
rs2074435	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2075472	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2141959	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2227260	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2231568	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs2301734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2301737	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2871649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806249	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4806254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4806262	0.89[ASN][1000 genomes]
rs4806271	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806273	0.85[ASN][1000 genomes]
rs4806276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55849299	0.98[ASN][1000 genomes]
rs7250364	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7251912	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7257026	0.81[ASN][1000 genomes]
rs7258807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73036134	0.92[ASN][1000 genomes]
rs8112640	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546400-36549600	Weak transcription	Gastric	stomach
2	chr19:36546400-36577600	Weak transcription	Esophagus	oesophagus
3	chr19:36546400-36584000	Weak transcription	Right Atrium	heart
4	chr19:36546600-36549200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:36546600-36549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36546600-36549400	Weak transcription	Liver	Liver
7	chr19:36546600-36549400	Weak transcription	Psoas Muscle	Psoas
8	chr19:36546600-36549400	Weak transcription	HSMMtube	muscle
9	chr19:36546600-36551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:36546600-36551200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:36546600-36551200	Weak transcription	Brain Substantia Nigra	brain
12	chr19:36546600-36551600	Weak transcription	Brain Angular Gyrus	brain
13	chr19:36546600-36551600	Weak transcription	Brain Anterior Caudate	brain
14	chr19:36546600-36551600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:36546600-36556600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:36546600-36556800	Weak transcription	Spleen	Spleen
17	chr19:36546600-36557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:36546600-36572400	Weak transcription	Lung	lung
19	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
20	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:36546800-36549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:36546800-36549400	Weak transcription	Fetal Intestine Large	intestine
23	chr19:36546800-36549400	Weak transcription	Fetal Intestine Small	intestine
24	chr19:36546800-36550000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:36546800-36551600	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:36546800-36551800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:36546800-36551800	Weak transcription	HSMM	muscle
28	chr19:36546800-36557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:36546800-36572000	Weak transcription	Primary T cells from cord blood	blood
30	chr19:36546800-36572800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:36546800-36572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:36546800-36580200	Weak transcription	Fetal Kidney	kidney
33	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:36547000-36548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:36547000-36549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr19:36547000-36561200	Weak transcription	NH-A	brain
39	chr19:36547200-36549400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:36547200-36557600	Weak transcription	Placenta	Placenta
41	chr19:36547400-36548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:36547400-36548800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:36547400-36549400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:36547400-36549400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:36547400-36549400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:36547400-36549400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:36547400-36549400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:36547400-36549400	Weak transcription	Osteobl	bone
49	chr19:36547400-36549600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr19:36547400-36551200	Weak transcription	Primary hematopoietic stem cells	blood

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