Variant report

Variant	rs2815809
Chromosome Location	chr6:36096357-36096358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:36093390-36096743	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36093292..36096677-chr6:36162699..36165787,6	K562	blood:

Variant related genes	Relation type
MAPK13	TF binding region
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2815806	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs6457879	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs707994	0.89[TSI][hapmap]
rs851009	0.81[CEU][hapmap]
rs851021	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs851023	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs916344	0.86[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs916345	0.82[EUR][1000 genomes]
rs916346	0.88[MEX][hapmap]

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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2815809	SRPK1	cis	cerebellum	SCAN
rs2815809	DBN1	trans	lymphoblastoid	seeQTL
rs2815809	MAPK14	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
2	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
3	chr6:36084600-36097600	Weak transcription	Fetal Heart	heart
4	chr6:36086600-36098000	Weak transcription	Aorta	Aorta
5	chr6:36088800-36096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:36089000-36097800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:36089200-36097600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:36089400-36097800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:36089600-36097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:36091800-36096800	Weak transcription	GM12878-XiMat	blood
11	chr6:36091800-36097800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:36091800-36097800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:36091800-36097800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:36091800-36097800	Weak transcription	Right Atrium	heart
15	chr6:36091800-36098000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:36092200-36097600	Weak transcription	Pancreas	Pancrea
17	chr6:36092200-36097600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:36092200-36097800	Weak transcription	Liver	Liver
19	chr6:36092400-36097600	Weak transcription	Colonic Mucosa	Colon
20	chr6:36093400-36097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:36093600-36096400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:36093800-36096800	Enhancers	HUVEC	blood vessel
23	chr6:36093800-36097000	Enhancers	Lung	lung
24	chr6:36093800-36097800	Enhancers	NHDF-Ad	bronchial
25	chr6:36094000-36096400	Enhancers	NHLF	lung
26	chr6:36094000-36096600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:36094000-36096600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:36094400-36096400	Enhancers	K562	blood
29	chr6:36094400-36096800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:36094400-36097600	Enhancers	Fetal Intestine Small	intestine
31	chr6:36094600-36096800	Flanking Active TSS	HepG2	liver
32	chr6:36094800-36096600	Enhancers	Fetal Muscle Trunk	muscle
33	chr6:36094800-36096600	Flanking Active TSS	Hela-S3	cervix
34	chr6:36094800-36097000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr6:36094800-36097400	Weak transcription	Thymus	Thymus
36	chr6:36094800-36097600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:36094800-36097600	Enhancers	Fetal Intestine Large	intestine
38	chr6:36095000-36096400	Weak transcription	Fetal Thymus	thymus
39	chr6:36095000-36097400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:36095000-36097600	Weak transcription	Primary T cells from cord blood	blood
41	chr6:36095000-36097600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:36095000-36098000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:36095200-36097400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:36095200-36097600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:36095400-36097400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:36095400-36097600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:36095400-36097600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:36095400-36097600	Weak transcription	NHEK	skin
49	chr6:36095400-36097800	Weak transcription	Small Intestine	intestine
50	chr6:36095600-36096600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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