Variant report

Variant	rs12694867
Chromosome Location	chr2:231289976-231289977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231280204..231284388-chr2:231286093..231293391,7	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10202501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987948	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992427	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017690	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397985	1.00[CHD][hapmap]
rs13413034	1.00[CHD][hapmap]
rs17273810	1.00[LWK][hapmap];0.94[YRI][hapmap]
rs28445040	1.00[CHD][hapmap]
rs55798834	0.82[AFR][1000 genomes]
rs55900888	0.81[AFR][1000 genomes]
rs6710287	1.00[CHD][hapmap]
rs6710297	1.00[CHD][hapmap]
rs6716753	1.00[CHD][hapmap]
rs6737596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743984	1.00[CHD][hapmap]
rs73000209	0.83[AFR][1000 genomes]
rs7423615	1.00[CHD][hapmap]
rs9989899	1.00[CHD][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12694867	WDR69	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231281600-231294800	Weak transcription	Gastric	stomach
2	chr2:231281800-231293000	Weak transcription	Fetal Stomach	stomach
3	chr2:231282000-231293400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:231282000-231294000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:231282400-231292600	Weak transcription	A549	lung
6	chr2:231282600-231290000	Weak transcription	Placenta	Placenta
7	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
8	chr2:231283600-231294800	Weak transcription	HSMM	muscle
9	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
11	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
12	chr2:231284200-231290400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr2:231284200-231290400	Genic enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:231284200-231290800	Weak transcription	Hela-S3	cervix
15	chr2:231284200-231292000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:231284200-231292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:231284200-231292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:231284200-231294800	Weak transcription	Lung	lung
19	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
21	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:231284200-231304000	Weak transcription	NH-A	brain
23	chr2:231284400-231293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:231284600-231306200	Weak transcription	HMEC	breast
25	chr2:231285200-231290400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:231285400-231290400	Genic enhancers	Primary B cells from cord blood	blood
27	chr2:231287600-231291600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:231287600-231292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:231287600-231293400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:231287800-231292400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:231288400-231290800	Enhancers	HepG2	liver
32	chr2:231288600-231290400	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr2:231288800-231290000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:231288800-231290200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:231288800-231290600	Genic enhancers	Primary T cells from cord blood	blood
36	chr2:231288800-231290600	Weak transcription	HUVEC	blood vessel
37	chr2:231288800-231293800	Weak transcription	NHDF-Ad	bronchial
38	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
39	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
40	chr2:231289000-231290000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:231289000-231290000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:231289000-231290000	Enhancers	Liver	Liver
43	chr2:231289000-231290200	Weak transcription	NHEK	skin
44	chr2:231289000-231290400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:231289000-231290400	Weak transcription	K562	blood
46	chr2:231289000-231291600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:231289000-231291600	Weak transcription	Dnd41	blood
48	chr2:231289000-231291800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:231289000-231292000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:231289000-231292200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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