Variant report

Variant	rs9347479
Chromosome Location	chr6:161502094-161502095
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	chr6:161154056..161155892-chr6:161501781..161503522,2	K562	blood:
2	chr6:161496988..161499514-chr6:161501999..161503935,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[JPT][hapmap]
rs1464779	1.00[JPT][hapmap]
rs1464780	1.00[JPT][hapmap]
rs1543261	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1562026	1.00[JPT][hapmap]
rs1982291	1.00[JPT][hapmap]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	1.00[JPT][hapmap]
rs4472323	1.00[JPT][hapmap]
rs4708898	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4709486	1.00[JPT][hapmap]
rs4709490	1.00[JPT][hapmap]
rs4709491	1.00[JPT][hapmap]
rs4709495	1.00[JPT][hapmap]
rs4709496	1.00[JPT][hapmap]
rs615269	1.00[JPT][hapmap]
rs619393	1.00[JPT][hapmap]
rs6455701	1.00[JPT][hapmap]
rs6900500	1.00[JPT][hapmap]
rs6905942	1.00[JPT][hapmap]
rs6913706	1.00[JPT][hapmap]
rs6914092	1.00[JPT][hapmap]
rs6923835	1.00[JPT][hapmap]
rs6925502	1.00[JPT][hapmap]
rs6925800	1.00[JPT][hapmap]
rs6929462	1.00[JPT][hapmap]
rs6933810	1.00[JPT][hapmap]
rs705829	1.00[JPT][hapmap]
rs7738762	1.00[JPT][hapmap]
rs7753585	1.00[JPT][hapmap]
rs7760056	1.00[JPT][hapmap]
rs9355330	1.00[JPT][hapmap]
rs9355332	1.00[JPT][hapmap]
rs9355867	1.00[JPT][hapmap]
rs9355873	1.00[JPT][hapmap]
rs9364585	1.00[JPT][hapmap]
rs9364586	1.00[JPT][hapmap]
rs9365248	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9347479	MAP3K4	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
2	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
3	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
4	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:161471000-161503800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:161489800-161502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:161490000-161508000	Weak transcription	Fetal Heart	heart
10	chr6:161490800-161508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr6:161491200-161508400	Weak transcription	Stomach Mucosa	stomach
13	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
14	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
19	chr6:161493600-161502600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:161493800-161503800	Weak transcription	A549	lung
21	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
22	chr6:161494000-161505600	Strong transcription	GM12878-XiMat	blood
23	chr6:161494400-161509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:161494400-161525600	Strong transcription	Dnd41	blood
28	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
30	chr6:161495000-161505800	Strong transcription	Lung	lung
31	chr6:161495000-161512800	Strong transcription	Ovary	ovary
32	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
36	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung
37	chr6:161495400-161516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:161495600-161507000	Strong transcription	Fetal Intestine Small	intestine
39	chr6:161495600-161512800	Strong transcription	Fetal Muscle Leg	muscle
40	chr6:161496000-161502600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:161496000-161508200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:161496400-161506600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:161496800-161504600	Weak transcription	Fetal Brain Male	brain
45	chr6:161497000-161503000	Weak transcription	Fetal Kidney	kidney
46	chr6:161497000-161512600	Strong transcription	Thymus	Thymus
47	chr6:161497000-161513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:161497200-161504200	Strong transcription	Aorta	Aorta
49	chr6:161497400-161502200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:161497400-161508600	Weak transcription	Right Atrium	heart

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