Variant report

Variant	rs4757432
Chromosome Location	chr11:16789155-16789156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16783396..16784979-chr11:16788281..16791055,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10734249	1.00[CEU][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs10741708	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12799800	0.82[EUR][1000 genomes]
rs12799969	0.81[EUR][1000 genomes]
rs1501451	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1846936	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967192	0.82[EUR][1000 genomes]
rs1995343	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3802963	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4756862	0.85[EUR][1000 genomes]
rs4757428	0.86[EUR][1000 genomes]
rs4757431	0.85[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6486312	0.85[EUR][1000 genomes]
rs7110136	1.00[CEU][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7117140	0.85[EUR][1000 genomes]
rs7125008	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125262	0.92[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7128484	0.81[EUR][1000 genomes]
rs7939889	0.92[EUR][1000 genomes]
rs7944906	0.83[AMR][1000 genomes];0.87[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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4757432	SAA3P	cis	parietal	SCAN
rs4757432	TSG101	cis	cerebellum	SCAN
rs4757432	HLA-DRB5	trans	brain	seeQTL
rs4757432	RASSF10	cis	parietal	SCAN
rs4757432	TPH1	cis	parietal	SCAN
rs4757432	C11orf58	cis	cerebellum	SCAN
rs4757432	SLC6A5	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16773000-16789400	Weak transcription	Esophagus	oesophagus
2	chr11:16775000-16799200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:16775600-16798200	Weak transcription	Gastric	stomach
4	chr11:16775800-16801000	Weak transcription	Spleen	Spleen
5	chr11:16775800-16804000	Weak transcription	Colonic Mucosa	Colon
6	chr11:16776600-16797400	Weak transcription	Pancreas	Pancrea
7	chr11:16776600-16798400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:16777000-16803800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:16777200-16826000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:16777800-16797200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:16780000-16796600	Weak transcription	Stomach Mucosa	stomach
12	chr11:16780200-16795600	Weak transcription	Liver	Liver
13	chr11:16780200-16796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:16780200-16804600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:16780400-16797200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:16780600-16797000	Weak transcription	Fetal Brain Female	brain
17	chr11:16780600-16798200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:16780600-16799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:16781000-16796600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:16781800-16789600	Weak transcription	Fetal Heart	heart
21	chr11:16782000-16797000	Weak transcription	Right Ventricle	heart
22	chr11:16784400-16791200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:16785200-16791200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:16788800-16790000	Strong transcription	Fetal Intestine Small	intestine
25	chr11:16788800-16790200	Strong transcription	Duodenum Mucosa	Duodenum

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