Variant report

Variant	rs11814277
Chromosome Location	chr10:50226804-50226805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50226547..50228210-chr10:50244930..50247229,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10508911	0.95[CEU][hapmap]
rs10857434	0.95[CEU][hapmap]
rs11100985	0.95[CEU][hapmap]
rs11594923	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11813727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11813892	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11816318	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11817325	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17011692	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs17011715	1.00[CEU][hapmap]
rs17011726	1.00[CEU][hapmap]
rs17011755	0.95[CEU][hapmap]
rs17011799	0.95[CEU][hapmap];1.00[CHD][hapmap]
rs17700388	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17773666	0.95[CEU][hapmap]
rs17774058	1.00[CHD][hapmap]
rs2377692	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4272720	1.00[CEU][hapmap]
rs4453139	1.00[CEU][hapmap]
rs61848124	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61848153	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61848377	0.82[AMR][1000 genomes]
rs61850678	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7905715	0.90[CEU][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11814277	PTPRU	trans	parietal	SCAN
rs11814277	C10orf128	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:50217600-50227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
4	chr10:50218800-50231400	Weak transcription	Adipose Nuclei	Adipose
5	chr10:50220400-50233600	Weak transcription	Gastric	stomach
6	chr10:50220800-50231200	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:50221000-50233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:50221800-50227400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:50221800-50231400	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:50221800-50232400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:50222000-50231400	Weak transcription	Right Ventricle	heart
12	chr10:50222000-50233800	Weak transcription	Lung	lung
13	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:50223000-50231600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:50223000-50231600	Weak transcription	Left Ventricle	heart
16	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
17	chr10:50223600-50227800	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:50223600-50228000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr10:50223800-50227600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:50223800-50227800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr10:50224200-50228000	Strong transcription	Fetal Lung	lung
22	chr10:50224200-50231600	Weak transcription	Fetal Kidney	kidney
23	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
24	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:50225200-50227400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50225200-50227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50225800-50231200	Weak transcription	Brain Substantia Nigra	brain
28	chr10:50226400-50227800	Genic enhancers	Fetal Stomach	stomach
29	chr10:50226600-50227200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:50226600-50227200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:50226600-50227800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:50226600-50227800	Strong transcription	Aorta	Aorta
33	chr10:50226600-50227800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:50226600-50227800	Strong transcription	HSMMtube	muscle
35	chr10:50226800-50227000	Genic enhancers	Ovary	ovary
36	chr10:50226800-50227200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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