Variant report

Variant	rs10443175
Chromosome Location	chr1:76545413-76545414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76538798..76540470-chr1:76545089..76547752,3	K562	blood:

Variant related genes	Relation type
ENSG00000184005	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12123144	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12123760	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12127822	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1251470	0.96[ASN][1000 genomes]
rs1251471	0.96[ASN][1000 genomes]
rs1251473	0.96[ASN][1000 genomes]
rs1251474	0.96[ASN][1000 genomes]
rs1251486	0.83[EUR][1000 genomes]
rs1251489	0.83[EUR][1000 genomes]
rs1251492	0.84[EUR][1000 genomes]
rs1251494	0.83[EUR][1000 genomes]
rs1251495	0.83[EUR][1000 genomes]
rs1251496	0.84[EUR][1000 genomes]
rs1251501	0.83[EUR][1000 genomes]
rs1251502	0.83[EUR][1000 genomes]
rs1251504	0.84[EUR][1000 genomes]
rs1251505	0.84[EUR][1000 genomes]
rs1251506	0.82[EUR][1000 genomes]
rs1251507	0.83[EUR][1000 genomes]
rs1251509	0.83[EUR][1000 genomes]
rs1251510	0.82[EUR][1000 genomes]
rs1251511	0.84[EUR][1000 genomes]
rs1251512	0.83[EUR][1000 genomes]
rs1251513	0.83[EUR][1000 genomes]
rs1266117	0.84[EUR][1000 genomes]
rs17607383	0.80[EUR][1000 genomes]
rs17659615	0.86[EUR][1000 genomes]
rs34354538	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	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
rs10443175	ST6GALNAC3	cis	Thyroid	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76541000-76546600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76541200-76546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:76541200-76551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:76541600-76548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:76541600-76550000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:76541800-76546200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:76541800-76547400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:76542000-76545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:76542000-76547400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:76542200-76545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:76542200-76546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:76542200-76546400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:76542200-76546400	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:76542200-76546600	Weak transcription	Fetal Brain Female	brain
15	chr1:76542200-76553200	Weak transcription	Fetal Intestine Large	intestine
16	chr1:76542400-76545800	Weak transcription	Fetal Lung	lung
17	chr1:76542400-76546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:76542400-76546400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:76542400-76550000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:76542800-76546400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:76542800-76546400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:76542800-76547200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
24	chr1:76543000-76546200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:76543200-76546400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:76544400-76546400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:76545200-76545600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:76545200-76545800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:76545200-76545800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:76545200-76545800	Enhancers	Brain Anterior Caudate	brain
31	chr1:76545200-76546400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:76545200-76548600	Enhancers	Brain Hippocampus Middle	brain
33	chr1:76545200-76548800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:76545400-76545600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:76545400-76545600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:76545400-76545600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr1:76545400-76545600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:76545400-76545600	Enhancers	Fetal Intestine Small	intestine
39	chr1:76545400-76545600	Enhancers	Fetal Stomach	stomach
40	chr1:76545400-76545600	Enhancers	Left Ventricle	heart
41	chr1:76545400-76545600	Enhancers	Lung	lung
42	chr1:76545400-76546200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:76545400-76546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:76545400-76551400	Enhancers	HUES6 Cell Line	embryonic stem cell

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