Variant report

Variant	rs884241
Chromosome Location	chr5:126186957-126186958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126180771..126183524-chr5:126185712..126188380,2	K562	blood:
2	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10055711	0.88[ASN][1000 genomes]
rs1110322	0.83[CHB][hapmap]
rs11740069	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs6869763	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs72663350	0.81[ASN][1000 genomes]
rs7715302	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs867512	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs959573	0.82[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs884241	CHSY3	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126171200-126187000	Weak transcription	NH-A	brain
5	chr5:126172600-126187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:126175200-126187400	Weak transcription	Dnd41	blood
7	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:126181800-126187200	Weak transcription	GM12878-XiMat	blood
9	chr5:126181800-126189200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:126182000-126187400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:126182400-126187200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:126182600-126187200	Weak transcription	A549	lung
15	chr5:126182600-126187800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:126182600-126187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:126182600-126188200	Weak transcription	Colonic Mucosa	Colon
18	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
19	chr5:126182800-126187600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:126182800-126187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:126183200-126187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126183400-126188000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:126183600-126187200	Weak transcription	NHDF-Ad	bronchial
24	chr5:126183600-126188600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:126183800-126187200	Weak transcription	Fetal Kidney	kidney
27	chr5:126183800-126187200	Weak transcription	HUVEC	blood vessel
28	chr5:126183800-126187400	Weak transcription	HSMM	muscle
29	chr5:126183800-126187400	Weak transcription	HSMMtube	muscle
30	chr5:126183800-126188000	Weak transcription	Fetal Brain Female	brain
31	chr5:126183800-126188200	Weak transcription	Lung	lung
32	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
33	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:126184000-126187200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:126184200-126187400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:126184200-126187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:126184200-126187600	Weak transcription	Placenta	Placenta
38	chr5:126184200-126187600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:126184600-126187000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:126184600-126187200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:126185200-126187000	Weak transcription	Brain Substantia Nigra	brain
47	chr5:126185200-126187200	Weak transcription	Left Ventricle	heart
48	chr5:126185200-126187200	Weak transcription	Osteobl	bone
49	chr5:126185200-126187400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:126185400-126187200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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