Variant report

Variant	rs1530257
Chromosome Location	chr8:96261770-96261771
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96144307..96149700-chr8:96258787..96262664,8	MCF-7	breast:
2	chr8:96124960..96126763-chr8:96260721..96264387,3	MCF-7	breast:
3	chr8:96055071..96057640-chr8:96260633..96262435,2	MCF-7	breast:
4	chr8:96261216..96262799-chr8:96264991..96267413,2	K562	blood:
5	chr8:96249665..96253673-chr8:96259430..96262765,4	K562	blood:
6	chr8:96260878..96262975-chr8:96277953..96279731,2	K562	blood:
7	chr8:96167676..96169648-chr8:96260449..96262617,2	MCF-7	breast:
8	chr8:96144497..96146468-chr8:96258716..96261972,4	MCF-7	breast:
9	chr8:96261077..96263105-chr8:96279082..96281612,2	K562	blood:
10	chr8:96036259..96038702-chr8:96260972..96263190,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10956943	0.90[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs13258855	0.95[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs13259182	0.95[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs13263562	0.90[ASN][1000 genomes]
rs13263858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13270711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13279671	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1441394	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17669929	0.86[ASN][1000 genomes]
rs2083616	0.81[ASN][1000 genomes]
rs2439629	0.92[ASN][1000 genomes]
rs2439630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514551	0.92[ASN][1000 genomes]
rs2514552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514557	0.82[AMR][1000 genomes]
rs2514574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4492337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815255	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7820512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs876261	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs879997	0.80[ASN][1000 genomes]
rs879999	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs9297955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649978	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525440	chr8:96254346-96276292	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
5	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
6	chr8:96248400-96262200	Weak transcription	HepG2	liver
7	chr8:96249000-96280800	Weak transcription	Gastric	stomach
8	chr8:96249600-96271400	Weak transcription	Aorta	Aorta
9	chr8:96250400-96261800	Weak transcription	Spleen	Spleen
10	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
11	chr8:96251000-96271000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
13	chr8:96252200-96263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus
15	chr8:96255000-96263400	Weak transcription	Brain Anterior Caudate	brain
16	chr8:96255200-96268600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:96255200-96280400	Weak transcription	Fetal Brain Male	brain
18	chr8:96256400-96263600	Weak transcription	Primary T cells from cord blood	blood
19	chr8:96256800-96280400	Weak transcription	Lung	lung
20	chr8:96257000-96271400	Weak transcription	A549	lung
21	chr8:96257000-96280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:96257400-96271000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:96257400-96271400	Weak transcription	Ovary	ovary
24	chr8:96257400-96280400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:96257600-96263600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:96257800-96265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:96257800-96280400	Weak transcription	Fetal Kidney	kidney
28	chr8:96258000-96270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:96258000-96280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:96258200-96280400	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:96258400-96280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:96258800-96271400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:96259400-96263600	Weak transcription	Liver	Liver
34	chr8:96259800-96262400	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:96260000-96263400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:96260000-96280400	Weak transcription	Fetal Lung	lung
37	chr8:96260200-96262400	Enhancers	Primary B cells from cord blood	blood
38	chr8:96260400-96263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:96260400-96280400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:96260800-96280400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:96261000-96280400	Weak transcription	Fetal Heart	heart
42	chr8:96261200-96263600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:96261200-96280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:96261400-96280000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:96261600-96262200	Enhancers	Fetal Thymus	thymus

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