Variant report

Variant	rs7104083
Chromosome Location	chr11:17530484-17530485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17529263..17531115-chr11:17548910..17550754,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1076311	0.88[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10766407	1.00[ASW][hapmap];0.88[CEU][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11024315	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2003508	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2018972	1.00[ASW][hapmap];0.88[CEU][hapmap];0.98[GIH][hapmap];0.87[LWK][hapmap];0.95[TSI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2072234	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2190453	0.88[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237962	0.88[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3765644	1.00[ASW][hapmap];0.88[CEU][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs733874	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7104083	NAV2	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
2	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
3	chr11:17522600-17531800	Weak transcription	Colonic Mucosa	Colon
4	chr11:17522800-17531200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:17525400-17533600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:17526200-17539400	Weak transcription	Pancreas	Pancrea
7	chr11:17526600-17536600	Weak transcription	Brain Substantia Nigra	brain
8	chr11:17526600-17537200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:17527600-17549200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:17528600-17531000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:17528800-17530800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:17528800-17544000	Weak transcription	Gastric	stomach
13	chr11:17529200-17530800	Enhancers	Fetal Heart	heart
14	chr11:17529400-17530600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:17529600-17530600	Enhancers	Ovary	ovary
16	chr11:17529600-17530800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:17529600-17531000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:17529800-17530600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:17529800-17530600	Enhancers	Colon Smooth Muscle	Colon
20	chr11:17529800-17530600	Enhancers	HMEC	breast
21	chr11:17529800-17530800	Enhancers	Psoas Muscle	Psoas
22	chr11:17529800-17530800	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:17529800-17530800	Enhancers	HSMM	muscle
24	chr11:17529800-17531000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:17529800-17531000	Enhancers	HSMMtube	muscle
26	chr11:17529800-17532400	Enhancers	Spleen	Spleen
27	chr11:17529800-17548600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:17530000-17530600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:17530000-17530600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr11:17530000-17530800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:17530000-17530800	Enhancers	Right Atrium	heart
32	chr11:17530200-17530600	Enhancers	Osteobl	bone
33	chr11:17530200-17531400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:17530200-17533200	Weak transcription	Left Ventricle	heart
35	chr11:17530400-17530800	Enhancers	Adipose Nuclei	Adipose
36	chr11:17530400-17530800	Enhancers	Fetal Kidney	kidney
37	chr11:17530400-17531000	Enhancers	Fetal Intestine Large	intestine

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