Variant report

Variant	rs11740719
Chromosome Location	chr5:80723458-80723459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80723383..80725570-chr5:80725878..80728362,2	K562	blood:
2	chr5:80705376..80707322-chr5:80721977..80724375,2	K562	blood:
3	chr5:80721446..80723519-chr5:80723791..80726002,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10036712	1.00[CHB][hapmap]
rs10041030	0.91[CHB][hapmap]
rs10042201	0.91[CHB][hapmap]
rs10042303	1.00[CHB][hapmap]
rs10075648	0.92[CHB][hapmap]
rs10474031	0.92[CHB][hapmap]
rs10942267	0.82[CHB][hapmap]
rs10942269	0.82[CHB][hapmap]
rs11739075	0.91[CHB][hapmap]
rs11949697	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12697705	0.91[CHB][hapmap]
rs1541830	0.92[CHB][hapmap]
rs2162973	0.92[CHB][hapmap]
rs3805726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4274955	0.82[CHB][hapmap]
rs4392600	0.82[CHB][hapmap]
rs4426897	0.82[CHB][hapmap]
rs4513668	0.82[CHB][hapmap]
rs6452412	0.92[CHB][hapmap]
rs6452415	0.92[CHB][hapmap]
rs6452419	0.82[CHB][hapmap]
rs6868422	0.92[CHB][hapmap]
rs6868748	0.92[CHB][hapmap]
rs6871860	0.84[CHB][hapmap]
rs6872775	0.91[CHB][hapmap]
rs6874029	0.82[CHB][hapmap]
rs6877102	0.92[CHB][hapmap]
rs6880200	0.82[CHB][hapmap]
rs6883488	0.91[CHB][hapmap]
rs6887937	0.91[CHB][hapmap]
rs6897189	0.91[CHB][hapmap]
rs7711020	0.84[CHB][hapmap]
rs7717663	0.82[CHB][hapmap]
rs7719373	0.82[CHB][hapmap]
rs7725320	0.82[CHB][hapmap]
rs7733938	1.00[CHB][hapmap]
rs9596	0.92[CHB][hapmap]
rs964102	1.00[CHB][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11740719	ARSB	cis	parietal	SCAN
rs11740719	CKMT2	cis	cerebellum	SCAN
rs11740719	RASGRF2	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
2	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
5	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:80713600-80728200	Weak transcription	Lung	lung
9	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
10	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:80716400-80727400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:80716600-80730000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:80717000-80724800	Weak transcription	K562	blood
15	chr5:80717000-80743800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:80717200-80724400	Weak transcription	HMEC	breast
17	chr5:80717200-80769200	Weak transcription	Right Ventricle	heart
18	chr5:80718000-80768800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:80718400-80730800	Weak transcription	Primary B cells from cord blood	blood
20	chr5:80718400-80752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:80718400-80754800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:80718400-80755000	Weak transcription	GM12878-XiMat	blood
23	chr5:80718800-80727400	Weak transcription	Thymus	Thymus
24	chr5:80719000-80769200	Weak transcription	HSMMtube	muscle
25	chr5:80720400-80725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:80721000-80725400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:80721400-80723600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:80721400-80724000	Weak transcription	Hela-S3	cervix
29	chr5:80721600-80723600	Genic enhancers	Dnd41	blood
30	chr5:80721600-80725000	Enhancers	HUVEC	blood vessel
31	chr5:80721600-80739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:80721800-80724000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:80721800-80724400	Weak transcription	NH-A	brain
34	chr5:80722000-80724000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:80722000-80754800	Weak transcription	HSMM	muscle
36	chr5:80722200-80724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:80722200-80724400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:80722200-80730600	Weak transcription	Primary T cells from cord blood	blood
39	chr5:80722200-80731200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:80722400-80724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:80722400-80724400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:80722400-80724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:80722400-80724400	Weak transcription	Osteobl	bone
44	chr5:80722400-80724600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:80722400-80724800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:80722400-80729600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:80722400-80730800	Weak transcription	Fetal Kidney	kidney
48	chr5:80722400-80746600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:80722400-80754800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:80722400-80755200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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