Variant report

Variant	rs12894718
Chromosome Location	chr14:77821286-77821287
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77819648..77821971-chr14:77835569..77838449,2	K562	blood:
2	chr14:77817964..77819499-chr14:77821032..77823403,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10132619	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1017186	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1046428	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11845842	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850771	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12881799	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886056	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887558	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893462	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468951	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17105724	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861888	0.86[CHB][hapmap]
rs2111700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160838	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160839	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160840	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270419	0.86[CHB][hapmap]
rs2364155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209079	0.86[CHB][hapmap]
rs3759731	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3815625	0.86[CHB][hapmap]
rs383064	0.86[CHB][hapmap]
rs4141640	0.86[CHB][hapmap]
rs4903566	0.86[CHB][hapmap]
rs56162150	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67845205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155184	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73311369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311375	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671248	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77793200-77824600	Weak transcription	Psoas Muscle	Psoas
2	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:77806600-77822200	Weak transcription	NHDF-Ad	bronchial
5	chr14:77807800-77822000	Weak transcription	Osteobl	bone
6	chr14:77808400-77830600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:77809600-77825000	Weak transcription	Gastric	stomach
8	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
9	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:77810600-77822200	Weak transcription	K562	blood
11	chr14:77810600-77825400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:77810800-77823800	Weak transcription	Right Ventricle	heart
13	chr14:77811000-77821400	Weak transcription	Lung	lung
14	chr14:77811000-77824400	Weak transcription	Spleen	Spleen
15	chr14:77811200-77830000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:77811200-77835000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
18	chr14:77813000-77827000	Weak transcription	Primary B cells from cord blood	blood
19	chr14:77813000-77835600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
21	chr14:77814400-77824400	Weak transcription	Fetal Kidney	kidney
22	chr14:77816600-77822200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:77816800-77822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:77816800-77823600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:77816800-77835600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:77817000-77826000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:77817200-77822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:77817200-77825200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:77817200-77826600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:77817200-77827000	Weak transcription	GM12878-XiMat	blood
32	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:77817400-77822200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:77817400-77822800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:77817400-77823600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:77817400-77830400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:77817400-77830600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:77817400-77835200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:77817400-77835400	Weak transcription	Primary T cells from cord blood	blood
42	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:77817600-77821400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:77817600-77821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:77817600-77822000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:77817600-77822800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:77817600-77835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:77817800-77837600	Weak transcription	Fetal Intestine Small	intestine
49	chr14:77818000-77823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach

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