Variant report

Variant	rs1487438
Chromosome Location	chr8:48595345-48595346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48423689..48426606-chr8:48594081..48596152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253330	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10088698	0.83[GIH][hapmap];0.83[TSI][hapmap]
rs10092880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095193	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097508	0.80[AMR][1000 genomes]
rs10107723	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10958274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542855	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28795698	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28809491	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3614	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4873728	0.80[AMR][1000 genomes]
rs58297550	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6992255	0.86[EUR][1000 genomes]
rs6995756	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7016660	0.81[EUR][1000 genomes]
rs7017622	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72646361	0.81[EUR][1000 genomes]
rs72646372	0.89[AMR][1000 genomes]
rs72646383	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs729228	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7812323	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813617	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7822320	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7828380	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7830350	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7830633	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7830743	0.80[AMR][1000 genomes]
rs7831196	0.82[EUR][1000 genomes]
rs7832898	0.81[EUR][1000 genomes]
rs7838910	1.00[CEU][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs7839161	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7841661	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes]
rs7843066	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8178238	1.00[CEU][hapmap]
rs9918758	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48574800-48595800	Weak transcription	Ovary	ovary
2	chr8:48576000-48595800	Weak transcription	Gastric	stomach
3	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
5	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
9	chr8:48589600-48595800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:48589800-48595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:48590600-48625200	Weak transcription	HepG2	liver
14	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
15	chr8:48591200-48595400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:48591200-48595400	Weak transcription	Stomach Mucosa	stomach
17	chr8:48591200-48595600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:48591200-48595600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:48591400-48595600	Weak transcription	Fetal Heart	heart
20	chr8:48591400-48595800	Weak transcription	Left Ventricle	heart
21	chr8:48591400-48606000	Weak transcription	Right Ventricle	heart
22	chr8:48591800-48595600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:48591800-48595800	Weak transcription	Right Atrium	heart
24	chr8:48591800-48606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:48592200-48596400	Enhancers	Dnd41	blood
26	chr8:48592400-48595800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:48592400-48596200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:48592400-48596400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:48592600-48596200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:48592800-48597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:48593000-48601200	Weak transcription	Lung	lung
32	chr8:48593000-48605600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
34	chr8:48593200-48595400	Weak transcription	Small Intestine	intestine
35	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
37	chr8:48593400-48596200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:48593600-48599000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:48593600-48600200	Weak transcription	Placenta	Placenta
40	chr8:48593600-48606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:48593600-48606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:48593800-48596400	Enhancers	Primary T cells from cord blood	blood
45	chr8:48593800-48600200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
47	chr8:48594000-48599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:48594400-48596200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr8:48594400-48596800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:48594400-48597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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