Variant report

Variant	rs13250483
Chromosome Location	chr8:96260726-96260727
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr8:96069257..96069944-chr8:96260679..96261427,2	MCF-7	breast:
5	chr8:96249665..96253673-chr8:96259430..96262765,4	K562	blood:
6	chr8:95912286..95913059-chr8:96260714..96261265,2	MCF-7	breast:
7	chr8:96167676..96169648-chr8:96260449..96262617,2	MCF-7	breast:
8	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
9	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:
10	chr8:96144497..96146468-chr8:96258716..96261972,4	MCF-7	breast:
11	chr8:95960421..95962635-chr8:96259003..96261145,2	MCF-7	breast:
12	chr8:96259384..96261070-chr8:96280673..96282664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156172	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13248616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13252268	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13257305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13267037	0.89[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13267333	0.87[CEU][hapmap]
rs13267612	0.87[CEU][hapmap]
rs13268060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13272104	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13272361	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13276119	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276926	0.89[CEU][hapmap]
rs13278690	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs33970491	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34079000	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34202133	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34961968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35120548	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35306808	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35363033	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35432451	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35482239	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35543354	0.81[AMR][1000 genomes]
rs35559164	0.81[AMR][1000 genomes]
rs71532354	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs894149	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv819165	chr8:96259515-96260863	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 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	chr8:96254400-96261600	Weak transcription	Fetal Thymus	thymus
16	chr8:96255000-96263400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:96255200-96268600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:96255200-96280400	Weak transcription	Fetal Brain Male	brain
19	chr8:96256400-96263600	Weak transcription	Primary T cells from cord blood	blood
20	chr8:96256800-96280400	Weak transcription	Lung	lung
21	chr8:96257000-96271400	Weak transcription	A549	lung
22	chr8:96257000-96280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:96257400-96271000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:96257400-96271400	Weak transcription	Ovary	ovary
25	chr8:96257400-96280400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:96257600-96263600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:96257800-96265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:96257800-96280400	Weak transcription	Fetal Kidney	kidney
29	chr8:96258000-96270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:96258000-96280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:96258200-96280400	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:96258400-96260800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:96258400-96280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:96258800-96271400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:96259400-96263600	Weak transcription	Liver	Liver
36	chr8:96259800-96262400	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:96260000-96263400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:96260000-96280400	Weak transcription	Fetal Lung	lung
39	chr8:96260200-96262400	Enhancers	Primary B cells from cord blood	blood
40	chr8:96260400-96263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:96260400-96280400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:96260600-96260800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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