Variant report

Variant	rs375321340
Chromosome Location	chr12:49184047-49184048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49183880-49184178	HepG2	liver:	n/a	n/a
2	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
3	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49183691..49185359-chr12:49187187..49189450,2	K562	blood:
2	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
3	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
4	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
5	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
6	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000129315	Chromatin interaction

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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	esv3421909	chr12:49183035-49184233	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
4	chr12:49182200-49184200	Active TSS	Brain Anterior Caudate	brain
5	chr12:49182200-49184200	Active TSS	Brain Hippocampus Middle	brain
6	chr12:49183200-49188400	Weak transcription	NHEK	skin
7	chr12:49183400-49184200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr12:49183600-49184200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:49183600-49184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:49183600-49184200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:49183600-49184200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:49183600-49184200	Flanking Active TSS	Liver	Liver
13	chr12:49183600-49184200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr12:49183600-49184200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr12:49183600-49184200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr12:49183600-49184200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:49183600-49184200	Enhancers	Esophagus	oesophagus
18	chr12:49183600-49184200	Flanking Active TSS	Fetal Heart	heart
19	chr12:49183600-49184200	Enhancers	Placenta	Placenta
20	chr12:49183600-49184200	Enhancers	Lung	lung
21	chr12:49183600-49184200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:49183600-49184200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:49183600-49184200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr12:49183600-49184200	Flanking Active TSS	A549	lung
25	chr12:49183600-49184200	Flanking Active TSS	HepG2	liver
26	chr12:49183600-49184400	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr12:49183600-49184400	Flanking Active TSS	Stomach Mucosa	stomach
28	chr12:49183600-49184400	Flanking Active TSS	Hela-S3	cervix
29	chr12:49183800-49184200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:49183800-49184200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:49183800-49184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:49183800-49184200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:49183800-49184200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:49183800-49184200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:49183800-49184200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:49183800-49184200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:49183800-49184200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr12:49183800-49184200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:49183800-49184200	Flanking Active TSS	Fetal Kidney	kidney
40	chr12:49183800-49184200	Enhancers	Fetal Muscle Leg	muscle
41	chr12:49183800-49184200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr12:49183800-49184200	Enhancers	Gastric	stomach
43	chr12:49183800-49184200	Enhancers	Left Ventricle	heart
44	chr12:49183800-49184200	Enhancers	Ovary	ovary
45	chr12:49183800-49184200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:49183800-49184200	Enhancers	HMEC	breast
47	chr12:49183800-49184200	Enhancers	NHLF	lung
48	chr12:49183800-49184400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr12:49183800-49184400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr12:49183800-49184400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links