Variant report

Variant	rs12434427
Chromosome Location	chr14:64533508-64533509
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10136783	0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10138292	0.97[ASN][1000 genomes]
rs10141709	0.97[ASN][1000 genomes]
rs10145173	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11158526	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158529	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11622567	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625888	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627159	1.00[AFR][1000 genomes]
rs11628107	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850509	0.82[ASN][1000 genomes]
rs12432035	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435492	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17101637	0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17101640	0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17101651	1.00[JPT][hapmap]
rs2357347	1.00[ASN][1000 genomes]
rs34256889	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58222836	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720306	0.97[ASN][1000 genomes]
rs72720309	0.97[ASN][1000 genomes]
rs74056285	0.82[ASN][1000 genomes]
rs944462	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64516600-64541400	Weak transcription	HSMM	muscle
8	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
9	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
10	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
11	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:64519800-64534600	Weak transcription	Fetal Lung	lung
13	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:64520400-64539000	Weak transcription	Liver	Liver
15	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
16	chr14:64525400-64535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:64526600-64536000	Weak transcription	Fetal Brain Female	brain
20	chr14:64526800-64534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
22	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
23	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:64527000-64539600	Weak transcription	Ovary	ovary
25	chr14:64527000-64540200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:64527000-64540800	Weak transcription	Spleen	Spleen
27	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:64527200-64539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:64527400-64534200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:64527400-64538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:64527600-64539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:64527800-64534800	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:64527800-64536000	Weak transcription	Pancreas	Pancrea
35	chr14:64527800-64536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:64527800-64540400	Weak transcription	Hela-S3	cervix
37	chr14:64527800-64540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:64527800-64540800	Weak transcription	Esophagus	oesophagus
39	chr14:64527800-64540800	Weak transcription	Gastric	stomach
40	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:64528000-64536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:64528000-64540800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:64528000-64541400	Weak transcription	A549	lung
46	chr14:64528000-64541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
49	chr14:64528200-64539000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:64528400-64539400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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