Variant report

Variant	rs7920317
Chromosome Location	chr10:46049139-46049140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:46038014..46040186-chr10:46047906..46049912,2	K562	blood:
2	chr10:46047681..46050727-chr10:46051442..46055483,4	K562	blood:
3	chr10:46043857..46045748-chr10:46047438..46049398,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1073525	0.85[CHB][hapmap]
rs10751382	0.91[EUR][1000 genomes]
rs10751387	0.85[CHB][hapmap]
rs10900226	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10900227	0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11239587	0.82[CEU][hapmap]
rs1982795	0.82[CEU][hapmap]
rs2242332	0.90[EUR][1000 genomes]
rs2242334	0.90[EUR][1000 genomes]
rs2291427	0.90[EUR][1000 genomes]
rs3103182	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3780913	0.91[EUR][1000 genomes]
rs4540799	0.84[EUR][1000 genomes]
rs4949006	0.81[CHB][hapmap]
rs7099874	0.84[EUR][1000 genomes]
rs7896175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422648	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9422656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv895111	chr10:45989745-46071900	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1041417	chr10:46021181-46088061	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv528750	chr10:46024620-46076235	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1052233	chr10:46024620-46088061	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1047117	chr10:46027942-46075946	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	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
rs7920317	ALOX5	cis	Nerve Tibial	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46010000-46056000	Weak transcription	Esophagus	oesophagus
2	chr10:46014400-46070000	Weak transcription	Psoas Muscle	Psoas
3	chr10:46018000-46052800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:46024400-46052800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:46026200-46057600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:46028200-46053000	Weak transcription	Ovary	ovary
7	chr10:46028200-46055600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:46028400-46052800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:46028800-46052400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:46028800-46052600	Weak transcription	Left Ventricle	heart
11	chr10:46028800-46053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:46028800-46069200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:46039600-46052600	Weak transcription	Spleen	Spleen
14	chr10:46040000-46054000	Weak transcription	Fetal Lung	lung
15	chr10:46040000-46056000	Weak transcription	Colonic Mucosa	Colon
16	chr10:46040200-46052400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:46040400-46056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:46040800-46050800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr10:46041400-46051400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:46042000-46053800	Weak transcription	Gastric	stomach
21	chr10:46042000-46062600	Weak transcription	Aorta	Aorta
22	chr10:46042200-46054800	Weak transcription	Fetal Intestine Small	intestine
23	chr10:46042400-46053200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:46043000-46051200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:46043400-46053200	Weak transcription	Right Ventricle	heart
26	chr10:46043400-46057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:46043600-46051600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:46043800-46053200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:46044000-46051600	Weak transcription	Brain Angular Gyrus	brain
30	chr10:46044000-46052800	Weak transcription	Brain Anterior Caudate	brain
31	chr10:46044000-46053000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr10:46044000-46053600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:46044400-46057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:46045000-46051400	Weak transcription	Liver	Liver
35	chr10:46045000-46052600	Weak transcription	Lung	lung
36	chr10:46045000-46052800	Weak transcription	K562	blood
37	chr10:46045000-46053000	Weak transcription	Thymus	Thymus
38	chr10:46045000-46058600	Weak transcription	Fetal Stomach	stomach
39	chr10:46045200-46053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:46045400-46051200	Weak transcription	Adipose Nuclei	Adipose
41	chr10:46045400-46051800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr10:46045400-46052000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:46045400-46052400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr10:46045600-46051800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:46045600-46052600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr10:46046000-46052600	Weak transcription	Right Atrium	heart
47	chr10:46046200-46052200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr10:46046200-46052800	Weak transcription	Primary T cells from cord blood	blood
49	chr10:46046200-46052800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr10:46046200-46057400	Weak transcription	Fetal Muscle Leg	muscle

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