Variant report

Variant	rs9394288
Chromosome Location	chr6:35222010-35222011
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	chr6:35215391..35219513-chr6:35220347..35223844,6	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10080361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10755687	0.94[CEU][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs10807150	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs10947540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1194	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12173582	0.95[JPT][hapmap]
rs13214290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1557567	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs1557568	1.00[CEU][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs1888822	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs1888823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1888824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1888825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1894650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1894651	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1894653	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1929847	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1929849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1987673	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2032538	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2071920	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2267657	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2267660	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2267661	0.95[JPT][hapmap]
rs2267662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2267663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2267664	1.00[JPT][hapmap]
rs2395614	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs3777744	0.82[JPT][hapmap]
rs3798342	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3798343	0.95[JPT][hapmap]
rs3800382	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800383	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3800386	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800387	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800388	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800392	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3800393	1.00[CEU][hapmap]
rs4711411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4711413	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4713845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4713848	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6457812	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap]
rs6902523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6913037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs6933979	0.83[CHB][hapmap]
rs6938946	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs8205	0.89[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap]
rs914547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9296144	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9348970	0.89[CEU][hapmap]
rs9366882	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap]
rs9366883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9368854	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9368857	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9380500	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9380501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9462065	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs9469953	0.83[CHB][hapmap]
rs9469964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs9469972	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs9469982	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap]
rs965272	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs975496	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9394288	DEF6	cis	Whole Blood	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35191400-35226000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:35194000-35225600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:35199600-35226600	Weak transcription	Esophagus	oesophagus
4	chr6:35199800-35226200	Weak transcription	Pancreas	Pancrea
5	chr6:35200600-35225000	Weak transcription	Fetal Brain Male	brain
6	chr6:35201400-35226200	Weak transcription	Stomach Mucosa	stomach
7	chr6:35202600-35225800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:35203400-35226000	Weak transcription	HSMMtube	muscle
9	chr6:35205600-35226000	Weak transcription	HSMM	muscle
10	chr6:35207400-35226200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:35207800-35224000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:35208200-35226000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:35208400-35226000	Weak transcription	NHEK	skin
14	chr6:35209800-35226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:35210600-35225400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:35211000-35226000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:35212400-35226000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:35213200-35226200	Weak transcription	Gastric	stomach
19	chr6:35213400-35225600	Weak transcription	Fetal Kidney	kidney
20	chr6:35213400-35226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:35213400-35226000	Weak transcription	NH-A	brain
22	chr6:35213600-35225600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:35214000-35225000	Weak transcription	HepG2	liver
24	chr6:35214000-35225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:35214000-35225800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:35214000-35226000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:35214400-35225000	Weak transcription	Brain Germinal Matrix	brain
28	chr6:35214400-35225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:35214400-35225600	Weak transcription	Dnd41	blood
30	chr6:35214400-35225800	Weak transcription	Fetal Lung	lung
31	chr6:35214400-35226000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:35214400-35226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:35214600-35225400	Weak transcription	Fetal Brain Female	brain
34	chr6:35214600-35226200	Weak transcription	Aorta	Aorta
35	chr6:35215000-35226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:35216400-35225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:35216600-35225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:35216600-35225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:35216800-35226000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:35217000-35225400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:35217000-35225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:35217400-35226400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr6:35217600-35226000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:35217600-35226000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:35217600-35226200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:35217800-35225400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:35217800-35225400	Weak transcription	K562	blood
48	chr6:35217800-35226000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:35217800-35226000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:35217800-35226200	Weak transcription	Psoas Muscle	Psoas

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