Variant report

Variant	rs12289289
Chromosome Location	chr11:75087520-75087521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75039417..75040266-chr11:75086974..75087948,4	K562	blood:
2	chr11:75060348..75063888-chr11:75083916..75089627,7	K562	blood:
3	chr11:75050760..75054714-chr11:75085548..75088941,3	MCF-7	breast:
4	chr11:75085831..75088242-chr11:75244155..75246948,2	K562	blood:
5	chr11:75086132..75088221-chr11:75109125..75111188,3	MCF-7	breast:
6	chr11:75087482..75089138-chr11:75092873..75094473,2	K562	blood:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11539810	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs12272576	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12274033	1.00[JPT][hapmap]
rs12280535	0.80[ASN][1000 genomes]
rs12285820	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12290287	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12291467	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12293207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12294621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3094303	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs3094304	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs3133186	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs3133187	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs34113413	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35597977	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35915199	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36098078	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71467876	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr11:75081200-75095200	Weak transcription	Dnd41	blood
2	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:75082800-75087600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:75083000-75087800	Enhancers	Placenta	Placenta
5	chr11:75083600-75091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:75083600-75094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:75083800-75091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:75083800-75092000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
10	chr11:75084000-75090200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:75084000-75091600	Weak transcription	K562	blood
12	chr11:75084000-75091800	Weak transcription	Liver	Liver
13	chr11:75084800-75090200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:75084800-75090200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:75085000-75091200	Weak transcription	Stomach Mucosa	stomach
16	chr11:75085000-75091800	Weak transcription	Hela-S3	cervix
17	chr11:75085400-75088200	Enhancers	A549	lung
18	chr11:75086000-75087800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:75086600-75087800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:75086800-75087800	Enhancers	Fetal Intestine Large	intestine
21	chr11:75086800-75087800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:75087000-75091800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:75087200-75087600	Enhancers	Fetal Intestine Small	intestine
24	chr11:75087200-75087800	Enhancers	Spleen	Spleen
25	chr11:75087200-75087800	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr11:75087400-75087600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:75087400-75091600	Weak transcription	Gastric	stomach
28	chr11:75087400-75099400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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