Variant report

Variant	rs7129919
Chromosome Location	chr11:17529218-17529219
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	chr11:17499490..17502461-chr11:17527268..17529480,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11024317	0.91[GIH][hapmap];0.83[TSI][hapmap]
rs1119618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934376	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs17703528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17714673	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2073584	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs4757538	0.91[ASN][1000 genomes]
rs7107406	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7119876	0.86[GIH][hapmap];0.80[TSI][hapmap]
rs72868496	0.96[ASN][1000 genomes]
rs878208	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs985575	1.00[CHB][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	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
rs7129919	TMEM86A	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17512600-17530000	Weak transcription	Right Atrium	heart
2	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
3	chr11:17516800-17529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
5	chr11:17521400-17529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:17521800-17529800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:17522600-17531800	Weak transcription	Colonic Mucosa	Colon
8	chr11:17522800-17531200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:17525400-17533600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:17526200-17539400	Weak transcription	Pancreas	Pancrea
11	chr11:17526600-17536600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:17526600-17537200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17526800-17529800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:17526800-17529800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:17526800-17529800	Weak transcription	HSMMtube	muscle
16	chr11:17527600-17549200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:17528200-17529800	Weak transcription	Spleen	Spleen
18	chr11:17528400-17530000	Strong transcription	Fetal Intestine Large	intestine
19	chr11:17528600-17529600	Weak transcription	Ovary	ovary
20	chr11:17528600-17530200	Enhancers	Left Ventricle	heart
21	chr11:17528600-17531000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:17528800-17529800	Weak transcription	HSMM	muscle
23	chr11:17528800-17530200	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:17528800-17530800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:17528800-17544000	Weak transcription	Gastric	stomach
26	chr11:17529200-17530800	Enhancers	Fetal Heart	heart

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