Variant report

Variant	rs11742106
Chromosome Location	chr5:80767323-80767324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10075648	0.80[CEU][hapmap]
rs10474031	0.80[CEU][hapmap]
rs13159596	0.91[ASN][1000 genomes]
rs13165194	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2162973	0.80[CEU][hapmap]
rs34672841	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35663154	0.91[ASN][1000 genomes]
rs35810595	1.00[ASN][1000 genomes]
rs35856763	0.82[ASN][1000 genomes]
rs35883849	0.93[ASN][1000 genomes]
rs35995231	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764986	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792923	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366209	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366246	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452409	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452412	0.80[CEU][hapmap]
rs6452415	0.80[CEU][hapmap]
rs66563423	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865796	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866727	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868422	0.80[CEU][hapmap]
rs6868748	0.80[CEU][hapmap]
rs6877102	0.80[CEU][hapmap];0.82[MEX][hapmap]
rs6887937	0.80[CEU][hapmap]
rs6894847	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895015	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896009	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702374	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711020	0.80[CEU][hapmap]
rs7719373	0.80[CEU][hapmap]
rs7725131	0.93[ASN][1000 genomes]
rs7725277	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737895	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9918175	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11742106	ARSB	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
3	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:80717200-80769200	Weak transcription	Right Ventricle	heart
6	chr5:80718000-80768800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80719000-80769200	Weak transcription	HSMMtube	muscle
8	chr5:80722400-80768800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:80722400-80768800	Weak transcription	Fetal Brain Female	brain
10	chr5:80722600-80767600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:80722600-80768000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:80722600-80768200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:80722600-80769000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:80722600-80769000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:80722600-80769000	Weak transcription	Fetal Brain Male	brain
16	chr5:80722600-80769000	Weak transcription	Psoas Muscle	Psoas
17	chr5:80722600-80769200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:80729600-80769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:80729800-80769200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:80730600-80767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:80731400-80768800	Weak transcription	Fetal Kidney	kidney
22	chr5:80731800-80769200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
24	chr5:80736000-80771200	Weak transcription	NHDF-Ad	bronchial
25	chr5:80736400-80768800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:80738200-80768400	Weak transcription	Brain Germinal Matrix	brain
27	chr5:80739200-80769000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:80739600-80768800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:80739800-80773200	Strong transcription	Fetal Thymus	thymus
30	chr5:80740400-80768000	Weak transcription	Left Ventricle	heart
31	chr5:80740400-80769400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:80745200-80771400	Weak transcription	Gastric	stomach
33	chr5:80746800-80769000	Weak transcription	Pancreas	Pancrea
34	chr5:80747000-80768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:80747000-80769600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:80747200-80768800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:80747200-80768800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:80747200-80769600	Weak transcription	HMEC	breast
39	chr5:80748600-80771200	Weak transcription	Lung	lung
40	chr5:80749000-80769200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:80749200-80768600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:80750400-80768000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:80750400-80768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:80750600-80768400	Weak transcription	Fetal Stomach	stomach
45	chr5:80751000-80768600	Weak transcription	Adipose Nuclei	Adipose
46	chr5:80751000-80768600	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:80751000-80768800	Weak transcription	Fetal Lung	lung
48	chr5:80753600-80769200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:80754200-80769200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:80754800-80768800	Weak transcription	NHLF	lung

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