Variant report

Variant	rs56973376
Chromosome Location	chr8:54649024-54649025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54640318..54643345-chr8:54643961..54649280,5	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1031979	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031980	0.95[ASN][1000 genomes]
rs10435587	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11994467	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11996300	0.90[ASN][1000 genomes]
rs12056486	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056719	0.98[ASN][1000 genomes]
rs12234972	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276766	0.86[ASN][1000 genomes]
rs1552148	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919507	1.00[EUR][1000 genomes]
rs16919508	0.83[EUR][1000 genomes]
rs16919522	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919534	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919537	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919541	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919563	0.95[ASN][1000 genomes]
rs16919571	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919573	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872063	0.92[ASN][1000 genomes]
rs1905061	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128150	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170444	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2376011	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735831	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757954	0.95[ASN][1000 genomes]
rs41321146	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236945	0.95[ASN][1000 genomes]
rs4737192	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4737518	0.83[EUR][1000 genomes]
rs4737554	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737558	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737753	0.86[EUR][1000 genomes]
rs4737761	0.86[EUR][1000 genomes]
rs4737764	0.95[ASN][1000 genomes]
rs4737765	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737821	0.95[ASN][1000 genomes]
rs4737974	0.83[EUR][1000 genomes]
rs4738027	0.83[EUR][1000 genomes]
rs4738470	0.87[ASN][1000 genomes]
rs4738646	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738701	0.93[EUR][1000 genomes]
rs4738884	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738916	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55682919	0.93[EUR][1000 genomes]
rs55876329	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55964335	0.91[ASN][1000 genomes]
rs56818292	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56956173	0.83[EUR][1000 genomes]
rs57550901	0.93[EUR][1000 genomes]
rs58473841	0.87[ASN][1000 genomes]
rs58558817	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58970885	0.83[EUR][1000 genomes]
rs61070518	0.89[ASN][1000 genomes]
rs6473893	0.91[EUR][1000 genomes]
rs6984257	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986372	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987427	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988009	0.93[ASN][1000 genomes]
rs6988082	0.93[EUR][1000 genomes]
rs6988812	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994851	0.93[EUR][1000 genomes]
rs6997003	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997127	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999454	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7005696	0.93[EUR][1000 genomes]
rs7006934	0.93[EUR][1000 genomes]
rs7009705	0.83[EUR][1000 genomes]
rs7018162	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73587624	0.85[ASN][1000 genomes]
rs73587627	0.87[ASN][1000 genomes]
rs73680321	0.83[EUR][1000 genomes]
rs73682549	1.00[EUR][1000 genomes]
rs73682551	1.00[EUR][1000 genomes]
rs73682552	0.93[EUR][1000 genomes]
rs73682555	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682568	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73682570	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387704	0.82[ASN][1000 genomes]
rs7843701	0.95[ASN][1000 genomes]
rs900163	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs958268	0.83[EUR][1000 genomes]
rs9643480	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643819	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643820	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
4	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
6	chr8:54636400-54649400	Weak transcription	Ovary	ovary
7	chr8:54640000-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:54640400-54651400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr8:54641000-54649400	Weak transcription	NHDF-Ad	bronchial
10	chr8:54641000-54654400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:54641600-54649400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:54642000-54652600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
14	chr8:54642800-54649600	Weak transcription	Left Ventricle	heart
15	chr8:54643600-54652600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:54644200-54651000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr8:54644600-54649200	Weak transcription	Liver	Liver
18	chr8:54645200-54651600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr8:54645200-54652600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:54645200-54654800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:54645400-54652600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:54645600-54649200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:54645600-54649400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:54645600-54651000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr8:54645600-54654600	Weak transcription	HSMM	muscle
26	chr8:54645600-54654800	Weak transcription	Osteobl	bone
27	chr8:54645600-54655000	Weak transcription	NH-A	brain
28	chr8:54645600-54671400	Weak transcription	NHLF	lung
29	chr8:54645800-54649200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:54645800-54650200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:54645800-54652600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
33	chr8:54646200-54649600	Weak transcription	Gastric	stomach
34	chr8:54646400-54649200	Weak transcription	Spleen	Spleen
35	chr8:54646800-54654400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:54647000-54649600	Weak transcription	Pancreas	Pancrea
37	chr8:54647000-54651200	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr8:54647000-54654800	Weak transcription	Brain Angular Gyrus	brain
39	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
40	chr8:54647400-54650200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:54647400-54651400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr8:54647600-54651400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr8:54647600-54651400	ZNF genes & repeats	Thymus	Thymus
44	chr8:54647600-54652400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr8:54647600-54654400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:54647600-54654800	Weak transcription	Fetal Kidney	kidney
47	chr8:54647600-54661600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:54647600-54666600	Weak transcription	A549	lung
49	chr8:54647800-54649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:54647800-54649200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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