Variant report

Variant	rs11829304
Chromosome Location	chr12:47527945-47527946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47526800..47528961-chr12:47531197..47533695,3	K562	blood:

Variant related genes	Relation type
ENSG00000258352	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10881059	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs11833039	0.89[ASN][1000 genomes]
rs11834555	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs1608825	1.00[CEU][hapmap]
rs17097638	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs58404650	0.89[ASN][1000 genomes]
rs59082668	0.89[ASN][1000 genomes]
rs59727019	0.87[EUR][1000 genomes]
rs61677310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927693	1.00[EUR][1000 genomes]
rs61927694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927713	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61927714	0.89[ASN][1000 genomes]
rs61927715	0.89[ASN][1000 genomes]
rs61927717	0.89[ASN][1000 genomes]
rs61927718	0.89[ASN][1000 genomes]

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2421679	chr12:47527599-47528845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
2	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:47506800-47528800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
9	chr12:47509200-47528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47509200-47529200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47509400-47531800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:47516200-47530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47516200-47533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:47517000-47532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:47517200-47534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:47517400-47538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:47518800-47533000	Weak transcription	NHEK	skin
18	chr12:47519400-47533000	Weak transcription	HSMM	muscle
19	chr12:47519600-47532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:47525200-47535200	Weak transcription	Esophagus	oesophagus
21	chr12:47525800-47533200	Weak transcription	Spleen	Spleen
22	chr12:47526000-47528200	Enhancers	A549	lung
23	chr12:47526400-47533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:47526600-47529200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47526600-47531800	Weak transcription	Fetal Intestine Small	intestine
26	chr12:47527000-47547800	Weak transcription	Ovary	ovary
27	chr12:47527200-47528200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:47527200-47533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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