Variant report

Variant	rs10491285
Chromosome Location	chr5:126340086-126340087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126330150..126334405-chr5:126338053..126340230,4	K562	blood:
2	chr5:126340043..126342118-chr5:126347777..126350003,2	K562	blood:
3	chr5:126307472..126309947-chr5:126340018..126342681,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10053382	0.86[CHB][hapmap]
rs10060747	0.86[CHB][hapmap]
rs10065302	0.86[CHB][hapmap]
rs1034844	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs10900789	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs11241913	0.86[CHB][hapmap]
rs11738569	0.87[AFR][1000 genomes]
rs12515192	0.86[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap]
rs12655220	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs2240527	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs2240528	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs4380710	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap]
rs4836307	0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs6891436	0.86[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap]
rs729607	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs7706333	0.86[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap]
rs7733551	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs7736693	0.86[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][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
rs10491285	MARCH3	cis	cerebellum	SCAN
rs10491285	CHSY3	cis	parietal	SCAN
rs10491285	MARCH3	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

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	chr5:126335200-126340400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:126335800-126341000	Enhancers	HSMM	muscle
9	chr5:126336200-126345800	Weak transcription	Left Ventricle	heart
10	chr5:126336800-126341000	Enhancers	Fetal Muscle Leg	muscle
11	chr5:126337400-126344000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:126337600-126340400	Enhancers	HepG2	liver
13	chr5:126337600-126348600	Weak transcription	Right Ventricle	heart
14	chr5:126337800-126340200	Weak transcription	Small Intestine	intestine
15	chr5:126338000-126341400	Enhancers	Fetal Heart	heart
16	chr5:126338000-126341400	Enhancers	Stomach Mucosa	stomach
17	chr5:126338400-126342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:126338400-126342400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:126338400-126344000	Weak transcription	Psoas Muscle	Psoas
20	chr5:126338600-126340800	Enhancers	HSMMtube	muscle
21	chr5:126338600-126341200	Enhancers	Pancreas	Pancrea
22	chr5:126338600-126342000	Weak transcription	NHLF	lung
23	chr5:126338600-126342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:126338800-126342000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:126338800-126342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:126338800-126345200	Weak transcription	Osteobl	bone
27	chr5:126338800-126345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:126338800-126345400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:126338800-126345600	Weak transcription	NHDF-Ad	bronchial
30	chr5:126338800-126346600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:126338800-126347000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:126339200-126340600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:126339200-126340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:126339400-126340200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:126339400-126340600	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:126339400-126340600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:126339400-126340600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:126339400-126340800	Enhancers	Brain Substantia Nigra	brain
39	chr5:126339400-126341000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:126339400-126341400	Enhancers	Primary B cells from peripheral blood	blood
41	chr5:126339600-126340200	Enhancers	Primary B cells from cord blood	blood
42	chr5:126339600-126340400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:126339600-126340400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:126339600-126343600	Weak transcription	K562	blood
45	chr5:126339800-126340400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr5:126339800-126340600	Enhancers	Brain Hippocampus Middle	brain
47	chr5:126339800-126340600	Enhancers	Spleen	Spleen
48	chr5:126339800-126340800	Weak transcription	HUVEC	blood vessel
49	chr5:126339800-126344000	Weak transcription	Right Atrium	heart
50	chr5:126339800-126346000	Weak transcription	NH-A	brain

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