Variant report

Variant	rs9323650
Chromosome Location	chr14:78150336-78150337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1006038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]
rs1006039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs1006040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1008988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10139492	0.90[CHB][hapmap]
rs10142722	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs10143294	0.90[CHB][hapmap]
rs10144448	0.90[CHB][hapmap]
rs1048147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10483885	0.90[CHB][hapmap]
rs114763	0.90[CHB][hapmap]
rs11628888	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.92[TSI][hapmap]
rs12885306	0.90[CHB][hapmap]
rs12890728	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs13379065	1.00[CEU][hapmap]
rs1477262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs1477264	0.90[CHB][hapmap]
rs17106157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs176941	0.90[CHB][hapmap]
rs176943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap]
rs176946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap]
rs176951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs176955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs176956	0.90[CHB][hapmap]
rs176959	0.90[CHB][hapmap]
rs176963	0.90[CHB][hapmap]
rs176964	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs176965	0.90[CHB][hapmap]
rs176980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap]
rs2267756	0.90[CHB][hapmap]
rs2267759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2267760	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs2267761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2267762	0.90[CHB][hapmap]
rs2267763	0.90[CHB][hapmap]
rs2267764	0.90[CHB][hapmap]
rs2277917	0.90[CHB][hapmap]
rs2284234	0.90[CHB][hapmap]
rs2284235	0.90[CHB][hapmap]
rs2299930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs3759728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs3783980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs4632066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap]
rs4899670	0.90[CHB][hapmap]
rs4899673	0.90[CHB][hapmap]
rs6574399	0.90[CHB][hapmap]
rs6574404	0.95[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap]
rs7142390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7143926	0.90[CHB][hapmap]
rs7148078	0.86[CHB][hapmap]
rs7151685	0.90[CHB][hapmap]
rs759713	0.90[CHB][hapmap]
rs8003691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap]
rs8011337	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs8015645	0.90[CHB][hapmap]
rs8016447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap]
rs9323649	0.90[CHB][hapmap]
rs9323651	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv976357	chr14:78148706-78150357	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9323650	ALKBH	cis	multi-tissue	Pritchard
rs9323650	POMT2	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
7	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78138200-78154400	Strong transcription	Dnd41	blood
9	chr14:78140200-78156600	Weak transcription	K562	blood
10	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
12	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
14	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
18	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:78142400-78154200	Weak transcription	GM12878-XiMat	blood
27	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:78142800-78155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:78143000-78152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:78145000-78151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:78145400-78158600	Weak transcription	Spleen	Spleen
33	chr14:78146200-78152800	Weak transcription	Brain Germinal Matrix	brain
34	chr14:78146400-78150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:78146400-78152600	Weak transcription	Fetal Brain Female	brain
36	chr14:78146400-78153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:78146400-78157800	Weak transcription	Fetal Lung	lung
38	chr14:78146400-78160000	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:78146400-78161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:78146600-78150400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:78146600-78150400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:78146600-78153200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:78146800-78155800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:78147000-78157800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:78147400-78151400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:78147600-78151400	Strong transcription	Liver	Liver
47	chr14:78147800-78150400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:78147800-78152800	Weak transcription	Ovary	ovary
49	chr14:78148000-78153000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:78148000-78154600	Strong transcription	Primary T cells from cord blood	blood

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