Variant report

Variant	rs7125268
Chromosome Location	chr11:74880856-74880857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
2	chr11:74878507..74880401-chr11:74880638..74883167,2	K562	blood:
3	chr11:74880288..74883230-chr11:74887278..74889669,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10793114	0.87[EUR][1000 genomes]
rs10899076	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs10899077	0.90[EUR][1000 genomes]
rs10899078	0.86[CEU][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs10899079	0.80[JPT][hapmap]
rs11236348	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236349	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236350	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236351	0.87[EUR][1000 genomes]
rs11236352	0.87[EUR][1000 genomes]
rs11236353	0.87[EUR][1000 genomes]
rs11236354	0.87[EUR][1000 genomes]
rs11236356	0.85[JPT][hapmap]
rs11236357	0.86[CEU][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs11236361	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11236365	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11822379	0.87[EUR][1000 genomes]
rs12422149	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3740839	0.82[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs4397881	0.81[JPT][hapmap]
rs4944073	0.85[JPT][hapmap]
rs4944074	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944990	0.87[EUR][1000 genomes]
rs4944991	0.86[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs4944992	0.86[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs4944993	0.85[JPT][hapmap]
rs4944994	0.86[CEU][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs59633704	0.89[EUR][1000 genomes]
rs881217	0.81[JPT][hapmap]
rs949069	0.95[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];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	nsv1054122	chr11:74872792-74895241	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7125268	UVRAG	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
3	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:74870800-74901600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:74871400-74886800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:74874000-74885800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:74875400-74885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:74875600-74885400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:74875800-74885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:74876000-74885800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:74876200-74884200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:74876200-74886000	Weak transcription	Fetal Thymus	thymus
15	chr11:74876200-74906200	Weak transcription	Spleen	Spleen
16	chr11:74876400-74882400	Genic enhancers	Liver	Liver
17	chr11:74877600-74883800	Strong transcription	Lung	lung
18	chr11:74878000-74881600	Genic enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:74878200-74882200	Enhancers	Stomach Mucosa	stomach
20	chr11:74878800-74883600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:74878800-74885600	Weak transcription	Left Ventricle	heart
22	chr11:74879200-74881400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr11:74879400-74881200	Strong transcription	Adipose Nuclei	Adipose
24	chr11:74879800-74881000	Genic enhancers	Colonic Mucosa	Colon
25	chr11:74880000-74881000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:74880000-74881800	Weak transcription	Right Ventricle	heart
27	chr11:74880000-74884200	Genic enhancers	Fetal Intestine Large	intestine
28	chr11:74880200-74881200	Strong transcription	Pancreas	Pancrea
29	chr11:74880400-74881000	Strong transcription	Fetal Stomach	stomach
30	chr11:74880400-74883200	Genic enhancers	Duodenum Mucosa	Duodenum
31	chr11:74880600-74881600	Enhancers	Small Intestine	intestine
32	chr11:74880600-74881800	Genic enhancers	Placenta	Placenta
33	chr11:74880800-74882600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:74880800-74884400	Genic enhancers	HepG2	liver
35	chr11:74880800-74885800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:74880800-74911000	Weak transcription	Gastric	stomach

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