Variant report

Variant	rs6469251
Chromosome Location	chr8:110305089-110305090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110298680..110300639-chr8:110303623..110306620,2	K562	blood:
2	chr8:110302918..110306043-chr8:110308192..110310489,3	MCF-7	breast:
3	chr8:110300725..110303179-chr8:110304720..110306354,2	MCF-7	breast:
4	chr8:109914966..109916782-chr8:110304946..110307932,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11985483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990328	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11997273	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997627	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11998117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879252	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879260	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879306	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6992830	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6993440	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7008315	0.80[AMR][1000 genomes]
rs7813597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820368	0.80[AMR][1000 genomes]
rs7825760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842107	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891278	chr8:110251998-110308776	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6469251	NUDCD1	cis	multi-tissue	Pritchard
rs6469251	CML66	cis	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
3	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:110255600-110305400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:110258400-110311200	Weak transcription	Lung	lung
9	chr8:110278200-110311200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:110284000-110305400	Weak transcription	Hela-S3	cervix
11	chr8:110284000-110306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
13	chr8:110285600-110305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:110285600-110311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:110286400-110311400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:110287200-110305400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:110288000-110305400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:110288200-110305400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:110288200-110311800	Weak transcription	K562	blood
20	chr8:110288600-110344200	Weak transcription	Ovary	ovary
21	chr8:110289200-110311200	Weak transcription	Gastric	stomach
22	chr8:110291800-110305400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:110292000-110333200	Weak transcription	HepG2	liver
24	chr8:110292800-110311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:110293400-110305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:110293400-110309200	Weak transcription	Liver	Liver
28	chr8:110294200-110311000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:110294200-110311600	Weak transcription	HSMM	muscle
30	chr8:110294600-110311200	Weak transcription	Esophagus	oesophagus
31	chr8:110294600-110314600	Weak transcription	Pancreas	Pancrea
32	chr8:110296000-110311400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:110296200-110305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:110296200-110305600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:110296200-110310400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:110296600-110305400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:110296600-110309000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:110296800-110311200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:110297800-110311400	Weak transcription	Small Intestine	intestine
40	chr8:110299400-110306600	Weak transcription	Brain Germinal Matrix	brain
41	chr8:110299600-110309000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:110300000-110310000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:110300000-110311000	Weak transcription	Fetal Intestine Large	intestine
44	chr8:110300000-110311200	Weak transcription	Adipose Nuclei	Adipose
45	chr8:110300000-110311400	Weak transcription	Left Ventricle	heart
46	chr8:110300600-110305400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:110300600-110305400	Weak transcription	Primary T cells from cord blood	blood
48	chr8:110300600-110305400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:110300600-110307000	Weak transcription	Fetal Kidney	kidney
50	chr8:110300800-110305400	Weak transcription	GM12878-XiMat	blood

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