Variant report

Variant	rs4709494
Chromosome Location	chr6:161545015-161545016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12527150	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404269	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488	0.82[AFR][1000 genomes]
rs1534020	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569937	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1822520	1.00[ASN][1000 genomes]
rs2177587	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314376	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905734	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919510	1.00[ASN][1000 genomes]
rs9365245	0.82[ASN][1000 genomes]
rs9365252	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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
rs4709494	MAP3K4	cis	brain	BrainEAC

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161527600-161547800	Weak transcription	Right Atrium	heart
2	chr6:161529600-161547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:161534000-161549800	Weak transcription	Stomach Mucosa	stomach
4	chr6:161534600-161547200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:161534600-161555800	Weak transcription	A549	lung
6	chr6:161534600-161559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:161537000-161546400	Weak transcription	NH-A	brain
8	chr6:161537600-161556800	Weak transcription	Gastric	stomach
9	chr6:161537800-161548200	Weak transcription	Small Intestine	intestine
10	chr6:161538200-161547800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:161538200-161548000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:161538200-161548000	Weak transcription	Aorta	Aorta
13	chr6:161538200-161549400	Weak transcription	NHEK	skin
14	chr6:161538200-161559600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:161538400-161547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:161538400-161547800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:161538400-161548000	Weak transcription	Lung	lung
18	chr6:161538400-161549400	Weak transcription	HSMMtube	muscle
19	chr6:161538400-161553000	Weak transcription	Spleen	Spleen
20	chr6:161538400-161557800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:161538400-161558400	Weak transcription	HMEC	breast
22	chr6:161538600-161547400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:161538600-161547400	Weak transcription	Fetal Stomach	stomach
24	chr6:161538600-161547400	Weak transcription	Thymus	Thymus
25	chr6:161538600-161547600	Weak transcription	Fetal Thymus	thymus
26	chr6:161538600-161547800	Weak transcription	Esophagus	oesophagus
27	chr6:161538600-161547800	Weak transcription	Right Ventricle	heart
28	chr6:161538600-161552600	Weak transcription	Pancreas	Pancrea
29	chr6:161538600-161554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:161538600-161555600	Weak transcription	NHLF	lung
31	chr6:161538600-161559600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:161538800-161549400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:161538800-161553000	Weak transcription	Colonic Mucosa	Colon
34	chr6:161538800-161554400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:161539600-161550800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:161539800-161548200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:161539800-161556800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:161539800-161557200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:161540600-161552800	Weak transcription	HUVEC	blood vessel
40	chr6:161541000-161547600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:161541200-161547800	Weak transcription	Osteobl	bone
43	chr6:161541400-161547800	Weak transcription	Placenta	Placenta
44	chr6:161541400-161562200	Weak transcription	NHDF-Ad	bronchial
45	chr6:161541600-161549400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:161541800-161546000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:161541800-161549400	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:161542000-161549600	Weak transcription	HSMM	muscle
49	chr6:161542000-161567200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney

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