Variant report

Variant	rs6991746
Chromosome Location	chr8:95396291-95396292
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	chr8:95393584..95395910-chr8:95396206..95398893,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10504937	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541117	1.00[ASN][1000 genomes]
rs12541176	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	1.00[ASN][1000 genomes]
rs12542942	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548615	1.00[ASN][1000 genomes]
rs16916769	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16916798	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2028429	1.00[ASN][1000 genomes]
rs2046663	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381828	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398457	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703913	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890804	1.00[ASN][1000 genomes]
rs3136403	1.00[ASN][1000 genomes]
rs3136405	1.00[ASN][1000 genomes]
rs3136408	1.00[ASN][1000 genomes]
rs3136409	1.00[ASN][1000 genomes]
rs34019009	0.91[ASN][1000 genomes]
rs4734277	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4735290	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59111232	0.85[AFR][1000 genomes]
rs59233901	1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60523486	1.00[ASN][1000 genomes]
rs60654408	1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	1.00[ASN][1000 genomes]
rs6991270	1.00[ASN][1000 genomes]
rs6991551	1.00[ASN][1000 genomes]
rs7001164	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73270196	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271915	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	1.00[ASN][1000 genomes]
rs73271959	1.00[ASN][1000 genomes]
rs73271964	1.00[ASN][1000 genomes]
rs73271995	1.00[ASN][1000 genomes]
rs73695185	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7817230	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829493	1.00[ASN][1000 genomes]
rs7836446	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845278	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
8	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
9	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
10	chr8:95382400-95414800	Weak transcription	Gastric	stomach
11	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:95385800-95403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:95386000-95397800	Weak transcription	HMEC	breast
15	chr8:95386000-95405600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:95386000-95413400	Weak transcription	NHLF	lung
17	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
18	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
19	chr8:95386400-95407400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:95386400-95412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:95387800-95410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:95389600-95409200	Weak transcription	Right Ventricle	heart
27	chr8:95389600-95409400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:95389800-95397600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:95389800-95413000	Weak transcription	Placenta	Placenta
30	chr8:95390200-95404800	Weak transcription	Small Intestine	intestine
31	chr8:95390400-95402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:95391600-95403600	Weak transcription	HepG2	liver
33	chr8:95391800-95399600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:95391800-95403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:95391800-95405400	Weak transcription	Fetal Brain Female	brain
36	chr8:95391800-95406000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:95391800-95410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:95391800-95412600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
40	chr8:95392200-95403600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
44	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:95392400-95399200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:95392400-95403400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:95392400-95403600	Weak transcription	Primary T cells from cord blood	blood
49	chr8:95392400-95403600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:95392400-95405400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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