Variant report

Variant	rs112736847
Chromosome Location	chr1:47915418-47915419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47903024..47904874-chr1:47914470..47916409,2	K562	blood:
2	chr1:47915342..47916245-chr1:48175831..48176815,5	MCF-7	breast:
3	chr1:47915304..47915981-chr1:48014901..48015680,3	MCF-7	breast:
4	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3431211	chr1:47915247-47915428	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47913000-47915600	Weak transcription	Pancreas	Pancrea
3	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
4	chr1:47913800-47916800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47914600-47915600	Bivalent Enhancer	Fetal Lung	lung
6	chr1:47914800-47915800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47915000-47916000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr1:47915000-47916200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr1:47915000-47916200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr1:47915200-47915800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr1:47915200-47916000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:47915200-47917200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:47915400-47915600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr1:47915400-47915600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:47915400-47915600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:47915400-47915600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:47915400-47915600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:47915400-47915600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr1:47915400-47915800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:47915400-47915800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:47915400-47915800	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr1:47915400-47915800	Enhancers	Liver	Liver
23	chr1:47915400-47915800	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr1:47915400-47916000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:47915400-47916000	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr1:47915400-47916200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr1:47915400-47916200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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