Variant report

Variant	rs73052310
Chromosome Location	chr1:180510253-180510254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:180509796-180510347	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr1:180509799-180510284	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr1:180509774-180510307	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr1:180509775-180510373	SK-N-SH	brain:	n/a	chr1:180510034-180510042

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180507839..180510458-chr1:180510629..180513153,2	K562	blood:
2	chr1:180505455..180510458-chr1:180510629..180513153,4	K562	blood:
3	chr1:180509296..180511935-chr1:180795313..180796906,2	K562	blood:
4	chr1:180505841..180513650-chr1:180514886..180521271,14	K562	blood:
5	chr1:180508398..180510494-chr1:180524364..180527463,3	K562	blood:
6	chr1:180506368..180508782-chr1:180508840..180510535,2	K562	blood:
7	chr1:180508149..180510326-chr1:180600706..180603079,2	K562	blood:
8	chr1:180497440..180500935-chr1:180506480..180510504,4	K562	blood:
9	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:
10	chr1:180470492..180472995-chr1:180509075..180511111,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266683	TF binding region
ENSG00000135847	Chromatin interaction
ENSG00000143324	Chromatin interaction
ENSG00000266683	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10798776	0.95[ASN][1000 genomes]
rs10914030	0.88[ASN][1000 genomes]
rs10914031	1.00[ASN][1000 genomes]
rs10914033	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095304	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339725	0.97[ASN][1000 genomes]
rs3845398	0.95[ASN][1000 genomes]
rs4651069	0.89[ASN][1000 genomes]
rs4651070	0.95[ASN][1000 genomes]
rs58012939	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58901111	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514062	0.93[ASN][1000 genomes]
rs7519288	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
3	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:180506200-180513200	Weak transcription	Pancreas	Pancrea
5	chr1:180506400-180511200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:180506600-180511200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:180506800-180511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:180508000-180513200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:180508800-180510400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180508800-180511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:180508800-180513000	Enhancers	Fetal Heart	heart
13	chr1:180509000-180510600	Enhancers	Left Ventricle	heart
14	chr1:180509000-180511600	Enhancers	HMEC	breast
15	chr1:180509400-180511400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:180509400-180512800	Enhancers	Osteobl	bone
17	chr1:180509400-180513400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:180509600-180510400	Enhancers	HSMM	muscle
19	chr1:180509600-180510600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:180509600-180510600	Enhancers	Adipose Nuclei	Adipose
21	chr1:180509600-180510800	Enhancers	NH-A	brain
22	chr1:180509600-180512200	Enhancers	HSMMtube	muscle
23	chr1:180510000-180512200	Enhancers	K562	blood
24	chr1:180510200-180510400	Enhancers	Ovary	ovary
25	chr1:180510200-180511200	Weak transcription	Right Atrium	heart
26	chr1:180510200-180511200	Weak transcription	Right Ventricle	heart
27	chr1:180510200-180512200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:180510200-180512600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle

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