Variant report

Variant	rs7133285
Chromosome Location	chr12:56699429-56699430
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	POLR2A	chr12:56698091-56700049	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56690402..56700610-chr12:56705161..56712229,20	K562	blood:
2	chr12:56694994..56697860-chr12:56698216..56699984,2	MCF-7	breast:
3	chr12:56697823..56700610-chr12:56707489..56710294,2	K562	blood:

Variant related genes	Relation type
ENSG00000257740	TF binding region
ENSG00000257727	Chromatin interaction
ENSG00000144785	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3809128	0.93[ASN][1000 genomes]
rs3816804	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56694600-56704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56694600-56708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56694800-56708200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:56694800-56708800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:56695000-56700400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:56695000-56700400	Weak transcription	Thymus	Thymus
7	chr12:56695000-56701800	Weak transcription	Ovary	ovary
8	chr12:56695000-56702000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:56695000-56702800	Weak transcription	Small Intestine	intestine
10	chr12:56695000-56703600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:56695000-56703600	Weak transcription	Esophagus	oesophagus
12	chr12:56695000-56703600	Weak transcription	Gastric	stomach
13	chr12:56695000-56704600	Weak transcription	Aorta	Aorta
14	chr12:56695000-56708000	Weak transcription	Fetal Brain Male	brain
15	chr12:56695000-56708600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:56695200-56699800	Weak transcription	Lung	lung
17	chr12:56695200-56700400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:56695200-56701800	Weak transcription	HSMMtube	muscle
19	chr12:56695200-56702000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:56695200-56702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:56695200-56702000	Weak transcription	Hela-S3	cervix
22	chr12:56695200-56702400	Weak transcription	NHDF-Ad	bronchial
23	chr12:56695200-56702600	Weak transcription	Left Ventricle	heart
24	chr12:56695200-56702800	Weak transcription	Spleen	Spleen
25	chr12:56695200-56703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:56695200-56703600	Weak transcription	Colonic Mucosa	Colon
27	chr12:56695200-56703600	Weak transcription	HMEC	breast
28	chr12:56695400-56700400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:56695600-56708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:56695600-56708200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:56695600-56708600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:56695800-56708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:56695800-56708000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:56696000-56708200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:56696200-56700400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:56696200-56700600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:56696200-56701800	Weak transcription	Psoas Muscle	Psoas
38	chr12:56696200-56702400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:56696200-56702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:56696200-56703600	Weak transcription	HUVEC	blood vessel
41	chr12:56696200-56704600	Weak transcription	Pancreas	Pancrea
42	chr12:56696200-56708200	Strong transcription	Fetal Intestine Small	intestine
43	chr12:56696200-56708400	Strong transcription	Fetal Stomach	stomach
44	chr12:56696400-56701800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:56696400-56702000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:56696400-56702000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:56696400-56703600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:56696400-56703800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:56696400-56704600	Weak transcription	Brain Substantia Nigra	brain
50	chr12:56696400-56707000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links