Variant report

Variant	rs117142879
Chromosome Location	chr19:45305584-45305585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45305482..45307163-chr19:45347228..45349647,2	MCF-7	breast:
2	chr19:45304092..45306165-chr19:45346908..45348709,2	MCF-7	breast:
3	chr19:45249756..45251752-chr19:45305375..45307414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
5	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
6	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:45297000-45307200	Weak transcription	Lung	lung
8	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:45298200-45310200	Weak transcription	Gastric	stomach
10	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
13	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
14	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:45303800-45305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:45303800-45305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:45303800-45307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:45303800-45310600	Weak transcription	Hela-S3	cervix
19	chr19:45304000-45305600	Weak transcription	Liver	Liver
20	chr19:45304000-45305600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:45304000-45305600	Weak transcription	Fetal Intestine Large	intestine
22	chr19:45304000-45307000	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:45304000-45307000	Weak transcription	Fetal Stomach	stomach
24	chr19:45304000-45307400	Weak transcription	Spleen	Spleen
25	chr19:45304000-45309800	Weak transcription	Fetal Heart	heart
26	chr19:45304000-45310400	Weak transcription	Esophagus	oesophagus
27	chr19:45304000-45310400	Weak transcription	Pancreas	Pancrea
28	chr19:45304200-45306800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:45304200-45307000	Strong transcription	Fetal Intestine Small	intestine
30	chr19:45304200-45307000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:45305200-45306000	Enhancers	HepG2	liver
32	chr19:45305400-45305600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr19:45305400-45305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:45305400-45306000	Enhancers	A549	lung
35	chr19:45305400-45306200	Strong transcription	HMEC	breast
36	chr19:45305400-45307600	Strong transcription	NHEK	skin

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