Variant report

Variant	rs208675
Chromosome Location	chr11:34447220-34447221
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34441574..34443132-chr11:34446213..34448223,2	K562	blood:
2	chr11:34447027..34448601-chr11:34452775..34454471,2	MCF-7	breast:
3	chr11:34443552..34446459-chr11:34446644..34449623,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1014749	0.81[ASN][1000 genomes]
rs1033509	0.91[ASN][1000 genomes]
rs10742316	0.91[ASN][1000 genomes]
rs12421999	0.81[ASN][1000 genomes]
rs16925614	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2076556	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs208677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208680	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208681	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208682	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208683	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300182	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2746169	0.91[ASN][1000 genomes]
rs4755374	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4756146	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs489554	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5026711	0.91[ASN][1000 genomes]
rs554518	0.90[EUR][1000 genomes]
rs55665450	0.85[ASN][1000 genomes]
rs564250	0.98[ASN][1000 genomes]
rs7102889	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7106485	0.80[ASN][1000 genomes]
rs7109778	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72923163	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72924903	0.83[ASN][1000 genomes]
rs7395059	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7928060	0.82[ASN][1000 genomes]
rs7928866	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs208675	CAT	cis	Whole Blood	GTEx
rs208675	CAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34438200-34448600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:34440200-34447400	Weak transcription	Hela-S3	cervix
3	chr11:34443400-34450000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
5	chr11:34444200-34447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:34444200-34447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:34444200-34447400	Weak transcription	A549	lung
8	chr11:34444200-34447400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:34444200-34447400	Weak transcription	NHLF	lung
10	chr11:34444400-34447800	Weak transcription	Liver	Liver
11	chr11:34445000-34447600	Weak transcription	K562	blood
12	chr11:34445000-34449400	Enhancers	HMEC	breast
13	chr11:34445200-34447800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:34445400-34447400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:34445400-34448200	Weak transcription	Fetal Lung	lung
16	chr11:34445400-34448600	Weak transcription	Lung	lung
17	chr11:34445600-34448200	Weak transcription	Placenta	Placenta
18	chr11:34445800-34447400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:34446600-34448400	Enhancers	HSMM	muscle
20	chr11:34446600-34448600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:34446600-34455000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:34446800-34447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:34446800-34448400	Enhancers	Osteobl	bone
24	chr11:34447000-34447800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:34447000-34448200	Enhancers	NHDF-Ad	bronchial
26	chr11:34447000-34448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:34447000-34448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:34447000-34449000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:34447000-34449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34447200-34449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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