Variant report

Variant	rs7713933
Chromosome Location	chr5:126340834-126340835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10053382	0.96[CEU][hapmap]
rs10057084	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10060747	0.96[CEU][hapmap]
rs10065302	0.96[CEU][hapmap]
rs10067364	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10071669	0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1013662	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs1034844	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs10491284	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10900789	0.93[CEU][hapmap];0.93[TSI][hapmap]
rs11241912	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs11241913	0.83[TSI][hapmap]
rs11949302	0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11956061	0.93[CEU][hapmap];0.91[TSI][hapmap]
rs11960799	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12515192	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs12655220	0.83[TSI][hapmap]
rs12655640	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12657369	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2041318	0.81[CEU][hapmap];0.90[CHB][hapmap];0.80[TSI][hapmap]
rs2191209	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs2240527	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs2240528	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs248040	0.90[CHB][hapmap]
rs248107	0.85[CEU][hapmap]
rs4131248	0.86[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs4380710	0.85[TSI][hapmap]
rs4835921	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs4836300	0.85[TSI][hapmap]
rs4836307	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs6860726	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs6883871	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6891436	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs727038	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs729607	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7706333	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7716410	0.93[CEU][hapmap];0.93[TSI][hapmap]
rs7731621	0.85[CEU][hapmap];0.95[CHB][hapmap]
rs7733551	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7736693	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs9327428	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7713933	C5orf63	cis	Nerve Tibial	GTEx
rs7713933	MARCH3	cis	Muscle Skeletal	GTEx
rs7713933	C5orf63	cis	Artery Tibial	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:126334400-126345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:126334400-126363000	Weak transcription	Ovary	ovary
6	chr5:126334600-126351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:126335800-126341000	Enhancers	HSMM	muscle
8	chr5:126336200-126345800	Weak transcription	Left Ventricle	heart
9	chr5:126336800-126341000	Enhancers	Fetal Muscle Leg	muscle
10	chr5:126337400-126344000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:126337600-126348600	Weak transcription	Right Ventricle	heart
12	chr5:126338000-126341400	Enhancers	Fetal Heart	heart
13	chr5:126338000-126341400	Enhancers	Stomach Mucosa	stomach
14	chr5:126338400-126342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:126338400-126342400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:126338400-126344000	Weak transcription	Psoas Muscle	Psoas
17	chr5:126338600-126341200	Enhancers	Pancreas	Pancrea
18	chr5:126338600-126342000	Weak transcription	NHLF	lung
19	chr5:126338600-126342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:126338800-126342000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:126338800-126342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:126338800-126345200	Weak transcription	Osteobl	bone
23	chr5:126338800-126345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:126338800-126345400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:126338800-126345600	Weak transcription	NHDF-Ad	bronchial
26	chr5:126338800-126346600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:126338800-126347000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:126339400-126341000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:126339400-126341400	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:126339600-126343600	Weak transcription	K562	blood
31	chr5:126339800-126344000	Weak transcription	Right Atrium	heart
32	chr5:126339800-126346000	Weak transcription	NH-A	brain
33	chr5:126340200-126347600	Weak transcription	Primary B cells from cord blood	blood
34	chr5:126340600-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:126340600-126342400	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:126340600-126343200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:126340600-126343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:126340600-126343600	Weak transcription	Brain Anterior Caudate	brain
39	chr5:126340600-126343800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:126340600-126345400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:126340600-126345600	Weak transcription	Small Intestine	intestine
42	chr5:126340600-126347000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:126340600-126347600	Weak transcription	Primary T cells from cord blood	blood
44	chr5:126340600-126348800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:126340800-126341200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:126340800-126342000	Weak transcription	HSMMtube	muscle
47	chr5:126340800-126342400	Weak transcription	Brain Substantia Nigra	brain
48	chr5:126340800-126347600	Weak transcription	Rectal Mucosa Donor 29	rectum

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