Variant report

Variant	rs7247947
Chromosome Location	chr19:45091966-45091967
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45090304..45092038-chr19:45111542..45114028,2	MCF-7	breast:
2	chr19:45089492..45092172-chr19:45146831..45148815,2	MCF-7	breast:
3	chr19:45090347..45092952-chr19:45163399..45165875,2	MCF-7	breast:
4	chr19:45091277..45092240-chr19:45157832..45158354,2	MCF-7	breast:
5	chr19:45090855..45093405-chr19:45093462..45095676,2	MCF-7	breast:
6	chr19:45091239..45092125-chr19:45160341..45161067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073008	Chromatin interaction
ENSG00000186567	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2686763	1.00[YRI][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	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv960931	chr19:45073821-45102725	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv961160	chr19:45087090-45092462	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45084800-45093400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:45088800-45092400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:45090200-45092400	Enhancers	NHDF-Ad	bronchial
4	chr19:45090400-45092400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:45090400-45092600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:45091000-45092000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr19:45091000-45092200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr19:45091000-45092400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:45091000-45092400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:45091000-45092400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr19:45091000-45092400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:45091000-45092600	Enhancers	HMEC	breast
13	chr19:45091000-45092600	Enhancers	NHLF	lung
14	chr19:45091000-45095800	Enhancers	Stomach Mucosa	stomach
15	chr19:45091200-45092200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:45091200-45092200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr19:45091200-45092400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:45091200-45092400	Enhancers	Left Ventricle	heart
19	chr19:45091200-45092600	Flanking Active TSS	A549	lung
20	chr19:45091200-45093000	Enhancers	Small Intestine	intestine
21	chr19:45091200-45094400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:45091200-45097400	Enhancers	Duodenum Mucosa	Duodenum
23	chr19:45091200-45097400	Enhancers	Fetal Intestine Large	intestine
24	chr19:45091200-45097400	Enhancers	Placenta	Placenta
25	chr19:45091200-45097800	Enhancers	Fetal Intestine Small	intestine
26	chr19:45091400-45092200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr19:45091400-45092400	Flanking Active TSS	Hela-S3	cervix
28	chr19:45091400-45093200	Enhancers	Psoas Muscle	Psoas
29	chr19:45091400-45094800	Enhancers	HepG2	liver
30	chr19:45091600-45092000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:45091600-45092000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr19:45091600-45092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:45091600-45092200	Flanking Active TSS	HUVEC	blood vessel
34	chr19:45091600-45092400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr19:45091600-45092400	Flanking Active TSS	Osteobl	bone
36	chr19:45091800-45092000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:45091800-45092000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:45091800-45092000	Enhancers	HSMM	muscle
39	chr19:45091800-45092000	Enhancers	HSMMtube	muscle
40	chr19:45091800-45092000	Enhancers	NH-A	brain
41	chr19:45091800-45092000	Enhancers	NHEK	skin
42	chr19:45091800-45093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:45091800-45097400	Enhancers	K562	blood

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