Variant report

Variant	rs1667633
Chromosome Location	chr8:100789815-100789816
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100189672..100191957-chr8:100789803..100791931,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10955219	0.84[EUR][1000 genomes]
rs12541307	0.83[EUR][1000 genomes]
rs12541910	0.83[EUR][1000 genomes]
rs12542004	0.83[EUR][1000 genomes]
rs12544405	0.83[EUR][1000 genomes]
rs12545238	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12546643	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12550139	0.83[EUR][1000 genomes]
rs1386375	0.83[EUR][1000 genomes]
rs1449784	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1449785	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1449792	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1615498	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1616204	0.82[EUR][1000 genomes]
rs1617299	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667631	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667634	0.85[EUR][1000 genomes]
rs1667635	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667637	0.85[EUR][1000 genomes]
rs1667638	0.84[EUR][1000 genomes]
rs1667639	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667642	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667644	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16892266	1.00[YRI][hapmap]
rs16897514	0.83[EUR][1000 genomes]
rs16897517	0.83[EUR][1000 genomes]
rs16897526	0.83[EUR][1000 genomes]
rs16897527	0.83[EUR][1000 genomes]
rs16897528	0.83[EUR][1000 genomes]
rs16897533	0.83[EUR][1000 genomes]
rs16897536	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16897542	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16897546	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16897573	0.89[LWK][hapmap];0.91[YRI][hapmap]
rs16897612	0.91[YRI][hapmap]
rs16897621	1.00[YRI][hapmap]
rs16897718	1.00[YRI][hapmap]
rs16897726	0.93[LWK][hapmap];1.00[YRI][hapmap]
rs1788143	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788145	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1788146	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1788147	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1788148	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1788150	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1788151	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788153	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788154	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788155	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1788156	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788158	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1788162	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1788163	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979115	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs1979116	1.00[YRI][hapmap]
rs2035617	0.84[EUR][1000 genomes]
rs2035618	0.83[EUR][1000 genomes]
rs2167102	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2442757	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2510201	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2510203	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35462366	0.83[EUR][1000 genomes]
rs4734437	1.00[YRI][hapmap]
rs58152103	0.83[EUR][1000 genomes]
rs7008019	0.83[EUR][1000 genomes]
rs7009315	0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs72674689	0.83[EUR][1000 genomes]
rs72674702	0.83[EUR][1000 genomes]
rs72676209	0.83[EUR][1000 genomes]
rs72676216	0.83[EUR][1000 genomes]
rs72676220	0.83[EUR][1000 genomes]
rs72676221	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72676228	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7462767	0.83[EUR][1000 genomes]
rs896008	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100734600-100796600	Weak transcription	Pancreas	Pancrea
2	chr8:100763600-100796600	Weak transcription	HSMMtube	muscle
3	chr8:100766200-100798000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:100769000-100798200	Weak transcription	Psoas Muscle	Psoas
6	chr8:100769600-100791000	Weak transcription	Fetal Kidney	kidney
7	chr8:100772000-100798000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:100772600-100791000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:100775000-100822400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:100776400-100790600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:100776600-100805800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:100777600-100807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:100777600-100809600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:100777800-100791000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:100777800-100807200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:100778000-100806400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
19	chr8:100778600-100796600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:100779400-100791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:100779400-100791000	Weak transcription	Brain Anterior Caudate	brain
22	chr8:100779800-100801800	Weak transcription	Fetal Brain Male	brain
23	chr8:100780000-100795600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:100780200-100796600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:100780400-100790800	Weak transcription	Left Ventricle	heart
26	chr8:100780400-100790800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:100780400-100791000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:100780400-100796600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:100780400-100799000	Weak transcription	Thymus	Thymus
30	chr8:100780400-100810200	Weak transcription	Aorta	Aorta
31	chr8:100780400-100810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:100780400-100816400	Weak transcription	Lung	lung
33	chr8:100780600-100790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:100780600-100791000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:100780600-100799800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:100780600-100801200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:100780600-100802800	Weak transcription	Dnd41	blood
38	chr8:100780600-100810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:100783000-100790800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:100783200-100791000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:100783200-100791000	Weak transcription	Ovary	ovary
42	chr8:100783200-100793000	Weak transcription	Fetal Stomach	stomach
43	chr8:100783200-100795800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:100783200-100796800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:100783200-100798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
47	chr8:100783200-100858200	Weak transcription	Gastric	stomach
48	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:100783600-100791000	Weak transcription	Fetal Brain Female	brain
50	chr8:100783600-100791000	Weak transcription	A549	lung

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