Variant report

Variant	rs12809774
Chromosome Location	chr12:49243911-49243912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49243168..49245554-chr12:49387627..49389911,2	MCF-7	breast:
2	chr12:49243837..49250262-chr12:49279824..49286856,16	MCF-7	breast:
3	chr12:49226521..49228044-chr12:49243718..49245705,2	MCF-7	breast:
4	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:
5	chr12:49243113..49245628-chr12:49452300..49454893,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199394	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000258283	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11834413	1.00[LWK][hapmap]
rs2024	1.00[LWK][hapmap]
rs2229954	1.00[LWK][hapmap]
rs3741624	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
5	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
7	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
8	chr12:49234200-49244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:49237000-49244200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49237000-49244400	Strong transcription	Fetal Intestine Large	intestine
11	chr12:49237000-49244600	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:49238200-49244200	Weak transcription	Fetal Kidney	kidney
13	chr12:49238200-49244200	Weak transcription	HMEC	breast
14	chr12:49238200-49244200	Weak transcription	NHLF	lung
15	chr12:49238200-49244600	Weak transcription	HSMMtube	muscle
16	chr12:49238400-49244200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:49238400-49244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:49238400-49244800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:49239200-49244200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:49239600-49244200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:49239600-49244200	Weak transcription	Small Intestine	intestine
22	chr12:49239600-49244400	Weak transcription	Pancreas	Pancrea
23	chr12:49239600-49244400	Weak transcription	Right Ventricle	heart
24	chr12:49239600-49245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:49239800-49244000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:49239800-49244200	Weak transcription	Brain Anterior Caudate	brain
27	chr12:49239800-49244200	Weak transcription	HUVEC	blood vessel
28	chr12:49239800-49244400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:49239800-49244400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:49239800-49244400	Weak transcription	Fetal Brain Female	brain
31	chr12:49239800-49244400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:49239800-49244400	Weak transcription	HSMM	muscle
33	chr12:49239800-49244600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:49239800-49244600	Weak transcription	Esophagus	oesophagus
35	chr12:49239800-49244600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:49239800-49244800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:49239800-49244800	Weak transcription	Left Ventricle	heart
38	chr12:49239800-49245200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:49239800-49245400	Weak transcription	Aorta	Aorta
40	chr12:49240000-49244200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:49240000-49244400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:49240000-49244400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49240000-49244400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:49240000-49244400	Weak transcription	Gastric	stomach
45	chr12:49240000-49244400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:49240000-49244600	Weak transcription	Fetal Brain Male	brain
47	chr12:49240200-49244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:49240200-49244200	Weak transcription	Colonic Mucosa	Colon
49	chr12:49240200-49244400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:49240200-49244400	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links