Variant report

Variant	rs66507348
Chromosome Location	chr5:145527627-145527628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:145527573-145527677	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr5:145527379-145528279	K562	blood:	n/a	n/a
3	POLR2A	chr5:145527436-145527754	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145525794..145527740-chr5:145551579..145553885,3	K562	blood:
2	chr5:145522049..145523762-chr5:145525453..145528304,2	K562	blood:
3	chr5:145524466..145529142-chr5:145530854..145534464,5	K562	blood:
4	chr5:145500906..145503400-chr5:145526760..145528273,2	K562	blood:
5	chr5:145527345..145529730-chr5:145535665..145537992,2	K562	blood:

No data

Variant related genes	Relation type
LARS	TF binding region
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10515568	0.83[EUR][1000 genomes]
rs11540216	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952903	0.83[EUR][1000 genomes]
rs11955443	0.82[AFR][1000 genomes]
rs11959720	0.83[EUR][1000 genomes]
rs12186358	0.82[AFR][1000 genomes]
rs17104247	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104260	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104266	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104268	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104293	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104347	0.83[EUR][1000 genomes]
rs17104362	0.83[EUR][1000 genomes]
rs17104371	0.83[EUR][1000 genomes]
rs17104395	0.80[EUR][1000 genomes]
rs17500483	0.82[AFR][1000 genomes]
rs35048100	0.81[AFR][1000 genomes]
rs4631229	0.83[EUR][1000 genomes]
rs4913066	0.82[AFR][1000 genomes]
rs56864252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57466173	0.83[EUR][1000 genomes]
rs57722184	0.83[EUR][1000 genomes]
rs58569901	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58922378	0.83[EUR][1000 genomes]
rs61455974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66891285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67350755	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67721586	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67897591	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68040240	0.81[EUR][1000 genomes]
rs6870249	0.83[EUR][1000 genomes]
rs6871866	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882243	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72806113	0.83[EUR][1000 genomes]
rs72806116	0.83[EUR][1000 genomes]
rs72806136	0.83[EUR][1000 genomes]
rs72806144	0.83[EUR][1000 genomes]
rs72806155	0.83[EUR][1000 genomes]
rs72806173	0.81[EUR][1000 genomes]
rs72806176	0.80[EUR][1000 genomes]
rs72820451	1.00[EUR][1000 genomes]
rs72820464	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72822208	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822263	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822274	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822293	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822296	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72824110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72824123	0.83[EUR][1000 genomes]
rs72824124	0.83[EUR][1000 genomes]
rs73315720	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317887	0.83[EUR][1000 genomes]
rs73317890	0.83[EUR][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:145491200-145534000	Strong transcription	Osteobl	bone
8	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
12	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:145491800-145541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:145491800-145546400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:145496200-145552200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:145500200-145541400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:145505400-145531600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:145506200-145528800	Weak transcription	Fetal Brain Male	brain
26	chr5:145506200-145529400	Weak transcription	Aorta	Aorta
27	chr5:145506200-145529600	Weak transcription	Gastric	stomach
28	chr5:145506200-145531600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:145506200-145542000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:145506400-145541800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:145510800-145546800	Strong transcription	Primary T cells from cord blood	blood
32	chr5:145511200-145534400	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:145511200-145542000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:145511200-145542200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:145511200-145548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:145511400-145534800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:145511400-145535000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:145511600-145552800	Strong transcription	Fetal Thymus	thymus
39	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:145513200-145529000	Weak transcription	Fetal Heart	heart
41	chr5:145513600-145531600	Weak transcription	Colonic Mucosa	Colon
42	chr5:145514000-145529800	Strong transcription	NHEK	skin
43	chr5:145514200-145532200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:145515800-145537000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:145515800-145546800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:145515800-145557400	Strong transcription	Liver	Liver
47	chr5:145516800-145545600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:145517000-145553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:145518000-145529600	Weak transcription	Spleen	Spleen
50	chr5:145518400-145534200	Strong transcription	Fetal Intestine Large	intestine

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