Variant report

Variant	rs4755940
Chromosome Location	chr11:45279968-45279969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1000665	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10769137	0.85[EUR][1000 genomes]
rs10838436	1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10838439	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11038366	0.90[CHB][hapmap]
rs11038371	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11601021	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12278234	0.90[CHB][hapmap]
rs12362429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362448	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863179	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3180446	0.90[CHB][hapmap]
rs4755308	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7124508	0.87[GIH][hapmap]
rs751197	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751198	0.91[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.81[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751995	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7942231	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4755940	PTPMT1	cis	cerebellum	SCAN
rs4755940	HARBI1	cis	parietal	SCAN
rs4755940	SYT13	cis	Skin Sun Exposed Lower leg	GTEx
rs4755940	SYT13	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45264400-45280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:45265400-45281200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:45267800-45280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:45272800-45281200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:45274000-45280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:45274400-45280000	Strong transcription	Fetal Intestine Small	intestine
7	chr11:45274400-45280000	Weak transcription	A549	lung
8	chr11:45274400-45281000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:45274400-45281200	Weak transcription	Pancreas	Pancrea
10	chr11:45274400-45281400	Weak transcription	Gastric	stomach
11	chr11:45274600-45280600	Weak transcription	Colonic Mucosa	Colon
12	chr11:45274600-45281000	Weak transcription	HSMM	muscle
13	chr11:45275600-45281200	Weak transcription	HSMMtube	muscle
14	chr11:45276000-45281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:45276000-45281000	Weak transcription	NH-A	brain
16	chr11:45276200-45281000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:45277200-45280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:45277600-45280600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:45277800-45280200	Weak transcription	Fetal Brain Female	brain
20	chr11:45279200-45280000	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr11:45279200-45282600	Enhancers	Fetal Stomach	stomach
22	chr11:45279600-45282400	Enhancers	Fetal Lung	lung
23	chr11:45279800-45282600	Enhancers	Fetal Brain Male	brain

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