Variant report

Variant	rs7519288
Chromosome Location	chr1:180502374-180502375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180496778..180499562-chr1:180501152..180503837,3	K562	blood:
2	chr1:180502356..180503796-chr1:180600630..180602287,6	MCF-7	breast:
3	chr1:180501965..180504289-chr1:180591221..180593705,2	MCF-7	breast:
4	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:
5	chr1:180501690..180504014-chr1:180594287..180597051,2	K562	blood:
6	chr1:180502057..180505158-chr1:180505270..180507785,3	K562	blood:
7	chr1:180469975..180472842-chr1:180501500..180503643,2	MCF-7	breast:
8	chr1:180501736..180504580-chr1:180849617..180851202,2	K562	blood:
9	chr1:180502374..180503243-chr1:181135435..181135943,2	MCF-7	breast:
10	chr1:180470259..180473109-chr1:180500598..180503372,2	K562	blood:
11	chr1:180502336..180503715-chr1:180832075..180833404,11	K562	blood:
12	chr1:180499940..180502814-chr1:180597459..180603584,7	MCF-7	breast:
13	chr1:180502266..180503256-chr1:180831780..180832994,8	MCF-7	breast:
14	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:
15	chr1:180502358..180503357-chr1:180831942..180832976,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10798776	0.90[ASN][1000 genomes]
rs10913994	1.00[CEU][hapmap]
rs10914007	1.00[CEU][hapmap]
rs10914030	0.83[ASN][1000 genomes]
rs10914031	0.95[ASN][1000 genomes]
rs10914033	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039933	1.00[CEU][hapmap]
rs12091722	1.00[CEU][hapmap]
rs12095304	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402815	1.00[CEU][hapmap]
rs12404209	1.00[CEU][hapmap]
rs12405902	1.00[CEU][hapmap]
rs1339725	0.93[ASN][1000 genomes]
rs1341924	1.00[CEU][hapmap]
rs2877415	1.00[CEU][hapmap]
rs3737584	1.00[CEU][hapmap]
rs3845398	0.90[ASN][1000 genomes]
rs4543756	1.00[CEU][hapmap]
rs4651069	0.84[ASN][1000 genomes]
rs4651070	0.90[ASN][1000 genomes]
rs58012939	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58901111	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425634	1.00[CEU][hapmap]
rs73052310	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514062	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7521151	0.85[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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
3	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
5	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
6	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
9	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart
10	chr1:180497000-180502400	Weak transcription	Fetal Heart	heart
11	chr1:180497000-180502600	Weak transcription	K562	blood
12	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
13	chr1:180498200-180502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:180499800-180503000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:180500000-180502400	Weak transcription	HepG2	liver
16	chr1:180500000-180503000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:180500000-180503400	Weak transcription	Osteobl	bone
18	chr1:180500000-180505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:180500200-180502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:180500200-180503000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:180500200-180503000	Weak transcription	Adipose Nuclei	Adipose
23	chr1:180500200-180503400	Weak transcription	HMEC	breast
24	chr1:180500400-180502800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:180500600-180505600	Weak transcription	Placenta	Placenta
26	chr1:180502200-180502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:180502200-180502600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:180502200-180502800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:180502200-180502800	Enhancers	Brain Angular Gyrus	brain
30	chr1:180502200-180503200	Enhancers	A549	lung
31	chr1:180502200-180503200	Enhancers	HUVEC	blood vessel
32	chr1:180502200-180503800	Enhancers	Fetal Brain Female	brain

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