Variant report

Variant	rs542732483
Chromosome Location	chr12:32551394-32551395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr12:32551026-32551504	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32550852..32553049-chr12:32831118..32832629,2	MCF-7	breast:
2	chr12:32551025..32552744-chr12:32831132..32833604,2	K562	blood:

Variant related genes	Relation type
FGD4	TF binding region
ENSG00000207176	TF binding region
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3324783	chr12:32551310-32553858	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32544200-32551600	Weak transcription	Gastric	stomach
2	chr12:32544200-32551800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:32544400-32551800	Weak transcription	Ovary	ovary
4	chr12:32544400-32551800	Weak transcription	HUVEC	blood vessel
5	chr12:32544600-32551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:32548400-32551600	Weak transcription	A549	lung
7	chr12:32550200-32551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:32550400-32551400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:32550400-32551400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:32550400-32551400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:32550600-32551400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:32550600-32551400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:32550600-32551400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:32550600-32551600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:32550600-32551600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:32550600-32551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:32550600-32551800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:32550600-32551800	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:32550800-32551400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:32550800-32551400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:32550800-32551800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:32550800-32551800	Enhancers	Pancreas	Pancrea
23	chr12:32550800-32552200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:32551000-32551600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32551000-32551600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:32551200-32551400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:32551200-32551400	Weak transcription	Colonic Mucosa	Colon
28	chr12:32551200-32551600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:32551200-32551600	Enhancers	Fetal Intestine Large	intestine
30	chr12:32551200-32551600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr12:32551200-32551600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:32551200-32551800	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:32551200-32551800	Enhancers	Fetal Intestine Small	intestine
34	chr12:32551200-32551800	Enhancers	Stomach Mucosa	stomach
35	chr12:32551200-32552000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:32551200-32552000	Enhancers	Esophagus	oesophagus
37	chr12:32551200-32554800	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links