Variant report

Variant	rs152973
Chromosome Location	chr5:14675173-14675174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:14675122-14675249	SH-SY5Y	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14675013..14677117-chr5:14685914..14688282,2	MCF-7	breast:
2	chr5:14672451..14674258-chr5:14675048..14677621,3	K562	blood:
3	chr5:14673939..14676437-chr5:14678453..14680700,3	K562	blood:
4	chr5:14663912..14667514-chr5:14673583..14676166,6	K562	blood:
5	chr5:14668622..14671046-chr5:14674810..14676511,2	K562	blood:
6	chr5:14673734..14676543-chr5:14682799..14684871,2	K562	blood:
7	chr5:14674501..14677095-chr5:14686339..14688159,2	K562	blood:
8	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:

No data

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000261360	Chromatin interaction
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13159680	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs149497	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152719	0.94[ASN][1000 genomes]
rs152970	0.94[ASN][1000 genomes]
rs152971	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152972	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153831	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153832	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153833	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153835	0.94[ASN][1000 genomes]
rs153836	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs153837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153934	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249895	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2455240	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs250878	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25941	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25942	0.94[ASN][1000 genomes]
rs25943	0.94[ASN][1000 genomes]
rs28107	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31993	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs31994	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs31995	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34087737	0.82[ASN][1000 genomes]
rs34617159	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39609	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs430035	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs455943	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs456977	1.00[EUR][1000 genomes]
rs457377	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs458863	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs461015	0.97[EUR][1000 genomes]
rs461056	1.00[EUR][1000 genomes]
rs461154	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs620434	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
3	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:14666400-14688200	Weak transcription	Ovary	ovary
6	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
7	chr5:14666800-14675600	Weak transcription	NHLF	lung
8	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
10	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
11	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
12	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
14	chr5:14667400-14676600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:14668600-14675400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:14668600-14675400	Weak transcription	Fetal Stomach	stomach
17	chr5:14668600-14675600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:14668600-14677000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:14668600-14677200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:14668800-14675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:14669400-14676800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:14669400-14677200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:14671200-14675400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:14671800-14675600	Weak transcription	Stomach Mucosa	stomach
25	chr5:14671800-14676400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:14672000-14684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:14672200-14675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:14672200-14676000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:14672200-14676600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
31	chr5:14672400-14676400	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:14672600-14675800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:14672600-14678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:14672800-14675400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:14672800-14675400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:14672800-14675400	Weak transcription	Psoas Muscle	Psoas
37	chr5:14672800-14675600	Weak transcription	NH-A	brain
38	chr5:14672800-14676400	Weak transcription	Lung	lung
39	chr5:14672800-14676600	Weak transcription	Colonic Mucosa	Colon
40	chr5:14672800-14679200	Weak transcription	HUVEC	blood vessel
41	chr5:14673000-14675200	Weak transcription	HSMMtube	muscle
42	chr5:14673000-14675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:14673000-14675400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:14673000-14675400	Weak transcription	Pancreas	Pancrea
45	chr5:14673000-14675400	Weak transcription	Small Intestine	intestine
46	chr5:14673000-14675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:14673000-14675600	Weak transcription	Adipose Nuclei	Adipose
48	chr5:14673000-14675600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:14673000-14675800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:14673000-14676200	Weak transcription	Right Atrium	heart

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