Variant report

Variant	rs729083
Chromosome Location	chr19:38514717-38514718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38494462..38497126-chr19:38513514..38515017,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1654345	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1654372	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs833918	0.81[CHB][hapmap]

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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
2	chr19:38495400-38526400	Weak transcription	Ovary	ovary
3	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:38496600-38515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:38496800-38520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:38497400-38515800	Weak transcription	Fetal Brain Male	brain
8	chr19:38497400-38520600	Weak transcription	Primary T cells from cord blood	blood
9	chr19:38498200-38514800	Weak transcription	HepG2	liver
10	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:38501000-38521400	Weak transcription	Thymus	Thymus
12	chr19:38502400-38523000	Weak transcription	Liver	Liver
13	chr19:38503800-38523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:38504000-38515200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:38504000-38515200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:38505200-38518600	Weak transcription	Fetal Stomach	stomach
17	chr19:38506200-38515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:38506600-38526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:38507400-38517800	Weak transcription	GM12878-XiMat	blood
20	chr19:38508000-38517000	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:38510000-38519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:38510000-38524200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:38510200-38515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:38511400-38517400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:38512200-38521600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:38512600-38517400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr19:38512800-38515200	Enhancers	Duodenum Mucosa	Duodenum
29	chr19:38513200-38514800	Enhancers	Primary B cells from cord blood	blood
30	chr19:38513200-38516600	Genic enhancers	Fetal Intestine Small	intestine
31	chr19:38513200-38517200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:38513200-38517200	Enhancers	Pancreas	Pancrea
33	chr19:38513400-38514800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:38513400-38514800	Enhancers	Adipose Nuclei	Adipose
35	chr19:38513400-38514800	Enhancers	HUVEC	blood vessel
36	chr19:38513400-38515000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:38513400-38515000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:38513400-38515000	Enhancers	Psoas Muscle	Psoas
39	chr19:38513400-38515000	Enhancers	Small Intestine	intestine
40	chr19:38513400-38515200	Enhancers	Fetal Muscle Leg	muscle
41	chr19:38513400-38515800	Enhancers	Stomach Mucosa	stomach
42	chr19:38513400-38516200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:38513400-38516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr19:38513400-38517200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr19:38513600-38514800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:38513600-38514800	Enhancers	Colonic Mucosa	Colon
47	chr19:38513600-38514800	Enhancers	Left Ventricle	heart
48	chr19:38513600-38514800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr19:38513600-38515000	Enhancers	Brain Angular Gyrus	brain
50	chr19:38513600-38515000	Enhancers	Brain Anterior Caudate	brain

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