Variant report

Variant	rs4902681
Chromosome Location	chr14:69426617-69426618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10151419	1.00[ASN][1000 genomes]
rs11620980	1.00[ASN][1000 genomes]
rs11623192	1.00[ASN][1000 genomes]
rs1275194	0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs2012752	1.00[ASN][1000 genomes]
rs242091	1.00[ASN][1000 genomes]
rs242096	1.00[ASN][1000 genomes]
rs242097	0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs242099	1.00[ASN][1000 genomes]
rs242102	0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs398504	1.00[ASN][1000 genomes]
rs4083451	1.00[ASN][1000 genomes]
rs436106	1.00[ASN][1000 genomes]
rs4899275	1.00[ASN][1000 genomes]
rs4902683	1.00[ASN][1000 genomes]
rs56060157	1.00[ASN][1000 genomes]
rs61981591	1.00[ASN][1000 genomes]
rs927064	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4902681	MAP3K9	cis	cerebellum	SCAN
rs4902681	GALNTL1	cis	cerebellum	SCAN
rs4902681	ACTN1	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
4	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:69420200-69428600	Weak transcription	Esophagus	oesophagus
7	chr14:69420200-69430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69420200-69441200	Genic enhancers	NHEK	skin
10	chr14:69420600-69441600	Genic enhancers	NH-A	brain
11	chr14:69420800-69427000	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr14:69421000-69432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:69421600-69427000	Enhancers	Liver	Liver
15	chr14:69421800-69427200	Genic enhancers	HSMM	muscle
16	chr14:69422400-69429000	Weak transcription	Thymus	Thymus
17	chr14:69422400-69433600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:69422600-69428400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:69422800-69428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:69422800-69428600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:69422800-69430800	Weak transcription	Fetal Kidney	kidney
22	chr14:69423000-69435000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:69423200-69428000	Genic enhancers	HepG2	liver
24	chr14:69423400-69427400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:69423400-69428200	Weak transcription	Brain Angular Gyrus	brain
26	chr14:69423600-69432400	Weak transcription	K562	blood
27	chr14:69423800-69429200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:69424000-69428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:69424000-69433200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:69424400-69429400	Enhancers	NHDF-Ad	bronchial
31	chr14:69424400-69430800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:69424400-69433000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:69424400-69433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:69424600-69427000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:69424600-69428400	Weak transcription	Colonic Mucosa	Colon
36	chr14:69424600-69429000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:69424600-69430000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:69424600-69430800	Weak transcription	Dnd41	blood
39	chr14:69424600-69433200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:69424800-69428400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:69424800-69428600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:69424800-69428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:69424800-69430200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:69425000-69428200	Weak transcription	Aorta	Aorta
45	chr14:69425000-69431400	Weak transcription	Hela-S3	cervix
46	chr14:69425000-69432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:69425200-69427600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:69425200-69428200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:69425200-69431400	Enhancers	Rectal Smooth Muscle	rectum
50	chr14:69425400-69426800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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