Variant report

Variant	rs551888683
Chromosome Location	chr12:8789243-8789244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv973017	chr12:8787931-8790231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8783000-8795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:8783400-8797200	Weak transcription	HSMMtube	muscle
4	chr12:8787400-8790200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:8787800-8790200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:8788000-8789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:8788000-8798600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:8788400-8790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:8788600-8789400	Enhancers	Placenta	Placenta
10	chr12:8788800-8791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:8789000-8789600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:8789000-8789600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:8789000-8789800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:8789000-8790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:8789200-8789600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:8789200-8789600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:8789200-8789600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:8789200-8789600	Enhancers	Fetal Muscle Leg	muscle
19	chr12:8789200-8789800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:8789200-8789800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:8789200-8790600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:8789200-8790600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:8789200-8790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:8789200-8790600	Enhancers	NHEK	skin
25	chr12:8789200-8790800	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links