Variant report

Variant	rs4944991
Chromosome Location	chr11:74860786-74860787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74860426..74862138-chr11:74866873..74869626,2	K562	blood:
2	chr11:74860782..74862620-chr11:74866728..74869676,2	MCF-7	breast:
3	chr11:74860499..74862617-chr11:74862814..74864502,2	K562	blood:

Variant related genes	Relation type
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10793114	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899076	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899078	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236348	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236350	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236351	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236352	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236353	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236354	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236356	0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[MEX][hapmap]
rs11236357	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236365	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs11822379	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12361277	0.86[AMR][1000 genomes]
rs4100076	0.91[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4397881	0.81[CHB][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs4944073	0.84[CHD][hapmap];0.92[AMR][1000 genomes]
rs4944074	0.95[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs4944974	0.81[CHB][hapmap]
rs4944975	0.90[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap]
rs4944990	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944992	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944993	0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[MEX][hapmap];0.92[AMR][1000 genomes]
rs4944994	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59633704	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592602	0.81[JPT][hapmap]
rs67904312	0.92[AMR][1000 genomes]
rs67947132	0.90[AMR][1000 genomes]
rs7125268	0.86[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs72996586	0.92[AMR][1000 genomes]
rs72998525	0.84[AMR][1000 genomes]
rs949069	0.90[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][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	nsv526053	chr11:74857436-74861545	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4944991	PDE2A	cis	parietal	SCAN
rs4944991	FCHSD2	cis	cerebellum	SCAN
rs4944991	UVRAG	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74852000-74861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74852400-74861000	Weak transcription	Stomach Mucosa	stomach
3	chr11:74853800-74862000	Enhancers	HepG2	liver
4	chr11:74853800-74862200	Enhancers	Placenta	Placenta
5	chr11:74854000-74862000	Enhancers	Fetal Intestine Large	intestine
6	chr11:74855200-74862200	Enhancers	Fetal Intestine Small	intestine
7	chr11:74855600-74861200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:74855600-74861600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:74856600-74863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
11	chr11:74858200-74861400	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:74859000-74861400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:74859000-74862200	Weak transcription	Left Ventricle	heart
14	chr11:74859000-74862400	Weak transcription	Liver	Liver
15	chr11:74859000-74863800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:74859200-74861800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:74859200-74862200	Weak transcription	Right Atrium	heart
18	chr11:74859200-74862400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:74859200-74863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:74859400-74862200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:74859800-74862200	Weak transcription	Lung	lung
22	chr11:74860000-74861000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:74860000-74861000	Weak transcription	Esophagus	oesophagus
24	chr11:74860000-74861200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:74860000-74861200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:74860000-74861200	Weak transcription	Fetal Thymus	thymus
27	chr11:74860000-74861200	Weak transcription	Pancreas	Pancrea
28	chr11:74860000-74861400	Weak transcription	Adipose Nuclei	Adipose
29	chr11:74860000-74861400	Weak transcription	Fetal Stomach	stomach
30	chr11:74860000-74864000	Weak transcription	Spleen	Spleen
31	chr11:74860400-74862000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:74860600-74861600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:74860600-74862000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:74860600-74862200	Enhancers	Colonic Mucosa	Colon

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