Variant report

Variant	rs8112492
Chromosome Location	chr19:38530460-38530461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38529387..38531297-chr19:38534097..38536082,2	MCF-7	breast:
2	chr19:38514808..38516815-chr19:38528383..38531251,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11879553	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11881136	1.00[EUR][1000 genomes]
rs11881503	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1654370	0.85[ASW][hapmap]
rs16978902	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35447904	1.00[EUR][1000 genomes]
rs56140434	1.00[EUR][1000 genomes]
rs57771568	1.00[EUR][1000 genomes]
rs57910731	1.00[EUR][1000 genomes]
rs58512019	1.00[EUR][1000 genomes]
rs705490	1.00[EUR][1000 genomes]
rs705498	1.00[EUR][1000 genomes]
rs7248658	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257055	1.00[EUR][1000 genomes]
rs7257668	1.00[EUR][1000 genomes]
rs73627652	1.00[EUR][1000 genomes]
rs73628610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73628691	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8100641	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8100668	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8101927	1.00[EUR][1000 genomes]
rs8103597	0.80[LWK][hapmap];0.84[YRI][hapmap]
rs8104392	1.00[EUR][1000 genomes]
rs8105848	0.90[AMR][1000 genomes]
rs8105919	1.00[EUR][1000 genomes]
rs8110656	0.91[AFR][1000 genomes]
rs8112893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1060359	chr19:38512719-38552438	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:38514800-38537000	Weak transcription	Colonic Mucosa	Colon
3	chr19:38516800-38536200	Weak transcription	Spleen	Spleen
4	chr19:38517000-38530800	Weak transcription	NHEK	skin
5	chr19:38517000-38537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:38521800-38537000	Weak transcription	Esophagus	oesophagus
7	chr19:38521800-38538400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:38521800-38538400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:38521800-38548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:38522000-38536600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:38522000-38553600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:38522200-38537200	Weak transcription	Thymus	Thymus
13	chr19:38524400-38538400	Weak transcription	Small Intestine	intestine
14	chr19:38525000-38530600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:38525000-38540000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:38525200-38536400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:38525200-38536600	Weak transcription	Gastric	stomach
18	chr19:38525800-38537000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:38525800-38538000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:38526000-38537600	Weak transcription	Fetal Intestine Large	intestine
21	chr19:38526800-38545600	Weak transcription	Stomach Mucosa	stomach
22	chr19:38527200-38532600	Weak transcription	GM12878-XiMat	blood
23	chr19:38527200-38534000	Weak transcription	Adipose Nuclei	Adipose
24	chr19:38527400-38530800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:38527800-38530600	Weak transcription	NHDF-Ad	bronchial
26	chr19:38527800-38530800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:38527800-38532200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:38527800-38548800	Weak transcription	Right Atrium	heart
29	chr19:38527800-38551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:38528000-38530800	Weak transcription	NHLF	lung
31	chr19:38528200-38530800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:38528200-38573200	Weak transcription	Left Ventricle	heart
33	chr19:38528600-38534200	Weak transcription	NH-A	brain
34	chr19:38528600-38538200	Weak transcription	HSMMtube	muscle
35	chr19:38528800-38530600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:38528800-38534200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:38528800-38534200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:38528800-38534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:38528800-38534200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:38528800-38534200	Weak transcription	Primary B cells from cord blood	blood
41	chr19:38528800-38543400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:38529000-38533400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:38529000-38534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:38529000-38534200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:38529000-38534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:38529000-38534400	Weak transcription	Lung	lung
47	chr19:38529000-38534800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:38529000-38536000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:38529000-38537800	Weak transcription	Fetal Muscle Leg	muscle
50	chr19:38529000-38538400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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