Variant report

Variant	rs11183795
Chromosome Location	chr12:47599360-47599361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47598802..47603269-chr12:47603355..47607825,7	K562	blood:
2	chr12:47598762..47601784-chr12:47665654..47668413,3	K562	blood:

Variant related genes	Relation type
ENSG00000247774	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10881077	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10881079	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11183779	1.00[CHB][hapmap]
rs11183783	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11183796	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183799	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12370622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554693	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821774	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822189	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2004683	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004684	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2111903	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768144	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768782	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55711758	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55849521	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712100	1.00[CHB][hapmap]
rs73110240	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs732523	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7974410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855146	1.00[CHB][hapmap]
rs855147	1.00[CHB][hapmap]
rs873935	1.00[CHB][hapmap]

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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
8	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
9	chr12:47597200-47599600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:47597200-47600200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:47597400-47599600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:47597600-47599800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:47597600-47600600	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr12:47597600-47600600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr12:47597800-47600000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47597800-47600400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:47598200-47600600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:47598400-47599800	Genic enhancers	Primary T cells from cord blood	blood
19	chr12:47598400-47600000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:47598400-47600400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:47598400-47600800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:47598600-47599600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:47598600-47600200	Genic enhancers	Primary B cells from cord blood	blood
24	chr12:47598800-47599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:47598800-47599800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:47598800-47600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:47598800-47601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:47598800-47605000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:47599000-47599600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:47599000-47600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:47599000-47600200	Enhancers	K562	blood
32	chr12:47599000-47603400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:47599200-47599600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:47599200-47599800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:47599200-47600000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:47599200-47600400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:47599200-47600400	Weak transcription	Placenta	Placenta
38	chr12:47599200-47600600	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:47599200-47600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:47599200-47601400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:47599200-47601400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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