Variant report

Variant	rs12182049
Chromosome Location	chr6:117821049-117821050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117814171..117818032-chr6:117819476..117821620,3	MCF-7	breast:
2	chr6:117803144..117805808-chr6:117819445..117822186,3	MCF-7	breast:
3	chr6:117818749..117822306-chr6:117824272..117826504,3	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10081022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72961480	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72963407	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9320605	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489200	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9489211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489215	0.81[AFR][1000 genomes]
rs9766117	0.94[ASN][1000 genomes]
rs9767675	0.94[ASN][1000 genomes]

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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117825600	Weak transcription	Lung	lung
2	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
3	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
4	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
8	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:117815600-117821200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:117816400-117821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
14	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:117816400-117828600	Weak transcription	K562	blood
16	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:117816800-117825600	Weak transcription	Left Ventricle	heart
18	chr6:117816800-117827800	Weak transcription	Gastric	stomach
19	chr6:117817600-117821400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:117817800-117827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:117818000-117823800	Weak transcription	Stomach Mucosa	stomach
22	chr6:117818200-117821200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:117818400-117825600	Weak transcription	Fetal Intestine Small	intestine
24	chr6:117818400-117833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:117818800-117824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:117818800-117825200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:117819600-117825400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:117819600-117827600	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:117819800-117821200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:117819800-117821400	Enhancers	HMEC	breast
31	chr6:117819800-117821800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:117819800-117823800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:117819800-117824600	Enhancers	HUVEC	blood vessel
34	chr6:117819800-117825200	Weak transcription	Adipose Nuclei	Adipose
35	chr6:117819800-117825200	Weak transcription	Fetal Intestine Large	intestine
36	chr6:117819800-117825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:117819800-117826400	Weak transcription	Aorta	Aorta
38	chr6:117819800-117827800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:117819800-117831600	Weak transcription	Hela-S3	cervix
40	chr6:117819800-117834200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
42	chr6:117820000-117821600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr6:117820000-117822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:117820000-117823000	Weak transcription	NHLF	lung
45	chr6:117820000-117823200	Weak transcription	HSMM	muscle
46	chr6:117820000-117823200	Weak transcription	HSMMtube	muscle
47	chr6:117820000-117825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:117820000-117825200	Weak transcription	GM12878-XiMat	blood
49	chr6:117820000-117825600	Weak transcription	Liver	Liver
50	chr6:117820200-117821600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links