Variant report

Variant	rs12184757
Chromosome Location	chr13:51867278-51867279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51865697..51869236-chr13:52025777..52029444,4	K562	blood:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11148216	1.00[CEU][hapmap]
rs11148217	1.00[CEU][hapmap]
rs11148219	1.00[CEU][hapmap]
rs11838784	1.00[CEU][hapmap]
rs11843641	1.00[CEU][hapmap]
rs12584416	1.00[CEU][hapmap]
rs12585171	1.00[CEU][hapmap]
rs12586110	1.00[CEU][hapmap]
rs4941699	1.00[CEU][hapmap]
rs4942995	1.00[CEU][hapmap]
rs4942996	1.00[CEU][hapmap]
rs4942998	1.00[CEU][hapmap]
rs4942999	1.00[CEU][hapmap]
rs7992891	1.00[CEU][hapmap]
rs7995268	1.00[CEU][hapmap]
rs9563042	1.00[CEU][hapmap]
rs9563044	1.00[CEU][hapmap]
rs9563045	1.00[CEU][hapmap]
rs9563047	1.00[CEU][hapmap]
rs9563049	1.00[CEU][hapmap]
rs9563050	1.00[CEU][hapmap]
rs9563055	1.00[CEU][hapmap]
rs9568570	1.00[CEU][hapmap]
rs9568573	1.00[CEU][hapmap]
rs9568574	1.00[CEU][hapmap]
rs9568576	1.00[CEU][hapmap]
rs9568578	1.00[CEU][hapmap]
rs9568581	1.00[CEU][hapmap]
rs9568586	1.00[CEU][hapmap]
rs9568589	1.00[CEU][hapmap]
rs9568593	1.00[CEU][hapmap]
rs9596493	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9634684	1.00[CEU][hapmap]
rs9634685	1.00[CEU][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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51853000-51889600	Weak transcription	Brain Angular Gyrus	brain
2	chr13:51855600-51875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:51857000-51871400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:51862400-51870800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51864800-51867400	Enhancers	Rectal Smooth Muscle	rectum
6	chr13:51865000-51867600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:51865000-51867600	Enhancers	Fetal Heart	heart
8	chr13:51865400-51867400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:51865400-51867600	Enhancers	Ovary	ovary
10	chr13:51865400-51867600	Enhancers	Pancreas	Pancrea
11	chr13:51865800-51867400	Enhancers	A549	lung
12	chr13:51866200-51867400	Enhancers	Stomach Smooth Muscle	stomach
13	chr13:51866200-51871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:51866200-51871400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:51866400-51867400	Enhancers	Fetal Brain Male	brain
16	chr13:51866400-51867600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:51866800-51867400	Enhancers	Fetal Stomach	stomach
18	chr13:51866800-51867600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:51866800-51867600	Enhancers	Left Ventricle	heart
20	chr13:51866800-51870600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:51867000-51867400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:51867000-51867600	Enhancers	Right Ventricle	heart
23	chr13:51867000-51867600	Bivalent Enhancer	HepG2	liver
24	chr13:51867000-51870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:51867200-51867600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:51867200-51867600	Enhancers	Spleen	Spleen
27	chr13:51867200-51871000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:51867200-51871200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:51867200-51873000	Weak transcription	Brain Anterior Caudate	brain

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