Variant report

Variant	rs9643819
Chromosome Location	chr8:54645982-54645983
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	chr8:54640318..54643345-chr8:54643961..54649280,5	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1031979	0.93[ASN][1000 genomes]
rs1031980	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10435587	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504158	0.80[YRI][hapmap]
rs11994467	0.89[ASN][1000 genomes]
rs11996300	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12056486	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056719	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12234972	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276766	0.86[ASN][1000 genomes]
rs1552148	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919507	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16919508	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919522	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919534	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919537	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919541	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919563	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919571	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16919573	0.93[ASN][1000 genomes]
rs1872063	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905061	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128150	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170444	0.93[ASN][1000 genomes]
rs2376011	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735831	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757954	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41321146	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236945	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737192	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4737518	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737554	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737764	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737765	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4737821	0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4737974	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4738027	0.84[EUR][1000 genomes]
rs4738470	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4738646	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738701	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4738884	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738916	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55682919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55876329	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55964335	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56818292	0.94[ASN][1000 genomes]
rs56956173	0.84[EUR][1000 genomes]
rs56973376	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57071607	0.92[EUR][1000 genomes]
rs57550901	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58473841	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58558817	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58970885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61070518	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984257	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986372	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987427	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988009	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988082	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6988808	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs6988812	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997003	0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997127	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6999454	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7009705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7017291	0.80[YRI][hapmap]
rs7018162	0.95[ASN][1000 genomes]
rs73587624	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73587627	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73680321	0.84[EUR][1000 genomes]
rs73682549	0.83[EUR][1000 genomes]
rs73682551	0.83[EUR][1000 genomes]
rs73682552	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73682555	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682568	0.95[ASN][1000 genomes]
rs73682570	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387704	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7843701	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900163	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs958268	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9643480	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643820	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
4	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
8	chr8:54627600-54649000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:54629400-54647400	Weak transcription	Small Intestine	intestine
10	chr8:54633000-54648200	Weak transcription	Brain Germinal Matrix	brain
11	chr8:54635000-54648200	Weak transcription	Right Atrium	heart
12	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
14	chr8:54636400-54649400	Weak transcription	Ovary	ovary
15	chr8:54637400-54648800	Strong transcription	Primary T cells from cord blood	blood
16	chr8:54638600-54648400	Weak transcription	Colonic Mucosa	Colon
17	chr8:54639200-54646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:54639400-54647000	Strong transcription	Primary B cells from cord blood	blood
19	chr8:54639400-54647000	Strong transcription	Adipose Nuclei	Adipose
20	chr8:54639400-54649000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:54639600-54648000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:54639600-54648400	Strong transcription	Fetal Stomach	stomach
23	chr8:54639800-54647400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:54639800-54647600	Strong transcription	Thymus	Thymus
25	chr8:54639800-54648000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:54640000-54647400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:54640000-54648800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:54640000-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:54640400-54651400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr8:54640600-54648800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:54640800-54648600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:54641000-54649400	Weak transcription	NHDF-Ad	bronchial
33	chr8:54641000-54654400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:54641200-54646400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:54641600-54649400	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:54642000-54649000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:54642000-54652600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:54642200-54649000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
40	chr8:54642800-54646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:54642800-54648600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:54642800-54649600	Weak transcription	Left Ventricle	heart
43	chr8:54643400-54646800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:54643600-54646800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:54643600-54648200	Enhancers	Stomach Mucosa	stomach
46	chr8:54643600-54652600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:54643800-54646400	Strong transcription	Spleen	Spleen
48	chr8:54644000-54646200	Strong transcription	Lung	lung
49	chr8:54644200-54646200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:54644200-54648400	Strong transcription	Fetal Thymus	thymus

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