Variant report

Variant	rs11135441
Chromosome Location	chr5:95222277-95222278
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	chr5:95219720..95223922-chr5:95224301..95226439,3	MCF-7	breast:
2	chr5:95212190..95213733-chr5:95220441..95223038,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10035477	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs10069748	0.90[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10070197	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs1043381	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs1057963	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1057964	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11135442	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11738768	0.82[EUR][1000 genomes]
rs11738945	0.80[CEU][hapmap]
rs11739652	0.82[EUR][1000 genomes]
rs11741563	0.81[EUR][1000 genomes]
rs11741590	0.90[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11744881	0.90[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs1423268	0.90[CEU][hapmap]
rs1423269	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs1458018	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs147295	0.85[TSI][hapmap]
rs17085231	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs17085249	0.90[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs1841010	0.90[CEU][hapmap]
rs2042340	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2270554	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs2348984	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2546191	0.83[EUR][1000 genomes]
rs2548594	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs3777167	0.80[CEU][hapmap];0.91[MEX][hapmap]
rs3777183	0.95[CEU][hapmap]
rs3777184	0.90[CEU][hapmap]
rs3777185	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs3777188	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs3777189	0.90[CEU][hapmap]
rs3777190	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs3777193	0.85[CEU][hapmap]
rs3777194	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs3777196	0.90[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3777197	0.83[EUR][1000 genomes]
rs3777200	0.90[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs3777201	0.82[EUR][1000 genomes]
rs3777202	0.82[EUR][1000 genomes]
rs3777203	0.82[EUR][1000 genomes]
rs3777204	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs3815768	0.90[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4642392	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs56156268	0.81[EUR][1000 genomes]
rs56219066	0.82[EUR][1000 genomes]
rs6556893	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6870370	0.85[AMR][1000 genomes]
rs6879652	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6885567	0.95[CEU][hapmap]
rs6889029	0.90[CEU][hapmap];0.97[TSI][hapmap]
rs6890954	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7702674	0.82[EUR][1000 genomes]
rs7716691	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs889302	0.85[CEU][hapmap]
rs903380	0.80[YRI][hapmap]
rs918629	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs9314162	0.90[CEU][hapmap]
rs967546	0.90[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11135441	ERAP1	cis	cerebellum	SCAN
rs11135441	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
6	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:95215200-95223600	Weak transcription	A549	lung
13	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
18	chr5:95216800-95223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:95217000-95223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:95217800-95225600	Weak transcription	Lung	lung
21	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
24	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
26	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
27	chr5:95218200-95224400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
30	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:95219200-95225600	Weak transcription	Pancreas	Pancrea
32	chr5:95219200-95226000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:95219200-95229600	Weak transcription	Esophagus	oesophagus
34	chr5:95219600-95223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:95219600-95225800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:95219800-95223600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:95219800-95223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:95220000-95225400	Weak transcription	HUVEC	blood vessel
40	chr5:95220000-95227400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:95220000-95242000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:95220000-95245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:95220200-95223600	Weak transcription	Gastric	stomach
44	chr5:95220200-95223800	Weak transcription	Primary B cells from cord blood	blood
45	chr5:95220200-95224400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:95220200-95225600	Weak transcription	Primary T cells from cord blood	blood
47	chr5:95220200-95225600	Weak transcription	Right Ventricle	heart
48	chr5:95220200-95225800	Weak transcription	Ovary	ovary
49	chr5:95220200-95230600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:95220200-95235400	Weak transcription	Primary hematopoietic stem cells	blood

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