Variant report

Variant	rs477837
Chromosome Location	chr11:75086670-75086671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75083067..75087216-chr11:75110418..75113000,3	MCF-7	breast:
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:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2510894	0.85[CEU][hapmap]
rs3016303	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs506412	0.84[CEU][hapmap]
rs518115	0.81[CEU][hapmap]
rs542784	0.82[CEU][hapmap]
rs542994	1.00[JPT][hapmap]
rs549304	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555875	0.84[CEU][hapmap]
rs568556	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580077	0.84[ASN][1000 genomes]
rs582477	0.81[CEU][hapmap]
rs657270	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs676703	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs677106	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs477837	POLD3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75081200-75095200	Weak transcription	Dnd41	blood
3	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:75082800-75087600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:75083000-75087800	Enhancers	Placenta	Placenta
6	chr11:75083400-75087200	Weak transcription	Spleen	Spleen
7	chr11:75083600-75091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:75083600-75094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:75083800-75086800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:75083800-75091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75083800-75092000	Weak transcription	Adipose Nuclei	Adipose
12	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
13	chr11:75084000-75090200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:75084000-75091600	Weak transcription	K562	blood
15	chr11:75084000-75091800	Weak transcription	Liver	Liver
16	chr11:75084200-75087200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:75084600-75086800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:75084800-75090200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:75084800-75090200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:75085000-75091200	Weak transcription	Stomach Mucosa	stomach
21	chr11:75085000-75091800	Weak transcription	Hela-S3	cervix
22	chr11:75085400-75088200	Enhancers	A549	lung
23	chr11:75086000-75087800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:75086400-75086800	Bivalent Enhancer	HepG2	liver
25	chr11:75086600-75087400	Enhancers	Gastric	stomach
26	chr11:75086600-75087800	Enhancers	Primary monocytes fromperipheralblood	blood

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