Variant report

Variant	rs12462698
Chromosome Location	chr19:19510363-19510364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19505389..19507306-chr19:19508971..19511086,3	MCF-7	breast:
2	chr19:19486764..19488409-chr19:19509423..19511563,2	MCF-7	breast:
3	chr19:19500452..19502150-chr19:19509546..19512266,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1054308	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12463074	0.85[AMR][1000 genomes]
rs12971734	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033481	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301785	0.85[AMR][1000 genomes]
rs2965187	0.86[ASN][1000 genomes]
rs34183201	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34351431	0.85[AMR][1000 genomes]
rs34539063	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35156688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4539728	0.85[AMR][1000 genomes]
rs4808201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4808943	0.85[AMR][1000 genomes]
rs4808949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808963	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7256550	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7257931	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74181134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74182632	0.85[AMR][1000 genomes]
rs74182635	0.85[AMR][1000 genomes]
rs74182637	0.85[AMR][1000 genomes]
rs74182638	0.85[AMR][1000 genomes]
rs74182639	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7508358	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7508458	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19498000-19510400	Weak transcription	A549	lung
3	chr19:19498000-19510400	Weak transcription	NHDF-Ad	bronchial
4	chr19:19498000-19515600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:19498200-19510400	Weak transcription	Fetal Stomach	stomach
6	chr19:19498400-19513600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:19499800-19510400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19500200-19510400	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:19500400-19515400	Weak transcription	Fetal Heart	heart
10	chr19:19500600-19510400	Weak transcription	Fetal Kidney	kidney
11	chr19:19500600-19515800	Weak transcription	Right Ventricle	heart
12	chr19:19501200-19514000	Weak transcription	Pancreas	Pancrea
13	chr19:19501400-19511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:19501400-19513600	Weak transcription	Psoas Muscle	Psoas
15	chr19:19501400-19513800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:19501800-19510800	Weak transcription	Brain Substantia Nigra	brain
17	chr19:19502600-19510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:19504600-19510400	Weak transcription	Fetal Lung	lung
19	chr19:19505600-19514200	Weak transcription	Small Intestine	intestine
20	chr19:19505800-19513800	Weak transcription	Stomach Mucosa	stomach
21	chr19:19506000-19510400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:19506000-19510400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:19506000-19510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:19506000-19510600	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:19506000-19510600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:19506000-19510600	Weak transcription	Thymus	Thymus
27	chr19:19506000-19510800	Weak transcription	HMEC	breast
28	chr19:19506000-19511000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:19506000-19511000	Weak transcription	Right Atrium	heart
30	chr19:19506000-19512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:19506000-19513600	Weak transcription	Hela-S3	cervix
32	chr19:19506000-19513600	Weak transcription	HepG2	liver
33	chr19:19506000-19513800	Weak transcription	Primary B cells from cord blood	blood
34	chr19:19506000-19513800	Weak transcription	Fetal Intestine Large	intestine
35	chr19:19506000-19514000	Weak transcription	Esophagus	oesophagus
36	chr19:19506000-19515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:19506000-19515800	Weak transcription	Colonic Mucosa	Colon
38	chr19:19506000-19515800	Weak transcription	Left Ventricle	heart
39	chr19:19506200-19510400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:19506200-19510400	Weak transcription	Brain Anterior Caudate	brain
41	chr19:19506200-19510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:19506200-19510600	Weak transcription	Liver	Liver
43	chr19:19506200-19510600	Weak transcription	HSMMtube	muscle
44	chr19:19506200-19511000	Weak transcription	Lung	lung
45	chr19:19506200-19513800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:19506200-19513800	Weak transcription	NHEK	skin
47	chr19:19506200-19515600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:19506200-19515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:19506200-19515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:19506200-19515800	Weak transcription	Spleen	Spleen

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