Variant report

Variant	rs73285919
Chromosome Location	chr8:100204271-100204272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100197794..100200560-chr8:100203500..100205350,2	MCF-7	breast:
2	chr8:100190689..100193029-chr8:100201859..100204401,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs6999016	1.00[AMR][1000 genomes]
rs73279736	1.00[AMR][1000 genomes]
rs73279739	1.00[AMR][1000 genomes]
rs73279749	1.00[AMR][1000 genomes]
rs73279752	1.00[AMR][1000 genomes]
rs73279757	1.00[AMR][1000 genomes]
rs73279767	1.00[AMR][1000 genomes]
rs73281614	1.00[AMR][1000 genomes]
rs73281620	1.00[AMR][1000 genomes]
rs73281629	1.00[AMR][1000 genomes]
rs73281632	1.00[AMR][1000 genomes]
rs73281661	1.00[AMR][1000 genomes]
rs73281671	1.00[AMR][1000 genomes]
rs73281672	1.00[AMR][1000 genomes]
rs73281685	1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281692	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281693	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281695	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7829755	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr8:100163400-100214400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:100163400-100224800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:100163400-100225000	Weak transcription	Fetal Thymus	thymus
4	chr8:100163400-100226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:100163400-100226800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:100163400-100230600	Weak transcription	Right Ventricle	heart
7	chr8:100163600-100214200	Weak transcription	Dnd41	blood
8	chr8:100163600-100214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:100163800-100206600	Weak transcription	GM12878-XiMat	blood
10	chr8:100164000-100205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:100164000-100225600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:100164000-100229600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:100164200-100245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:100164800-100214400	Weak transcription	Liver	Liver
15	chr8:100165200-100206400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:100171200-100205000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:100171400-100214400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100174800-100207800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:100175400-100222800	Weak transcription	Fetal Stomach	stomach
20	chr8:100176200-100222600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:100178800-100245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:100178800-100245000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:100179200-100204800	Weak transcription	Primary B cells from cord blood	blood
24	chr8:100179200-100217000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:100179200-100223000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:100179200-100229600	Weak transcription	Fetal Lung	lung
27	chr8:100179400-100216800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:100183000-100205000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:100186800-100206400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:100188000-100230800	Weak transcription	Left Ventricle	heart
31	chr8:100189600-100205800	Weak transcription	Primary T cells from cord blood	blood
32	chr8:100193200-100206200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:100193800-100204600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:100193800-100205000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:100193800-100206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:100193800-100208600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:100198200-100207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:100198400-100220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:100198400-100245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:100199000-100207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:100200200-100214200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:100201400-100245200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:100202200-100207400	Weak transcription	Fetal Kidney	kidney
44	chr8:100202200-100243600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:100202600-100215600	Weak transcription	K562	blood
46	chr8:100203000-100220800	Weak transcription	HepG2	liver
47	chr8:100203000-100222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:100203000-100230000	Weak transcription	HSMMtube	muscle
49	chr8:100203000-100236200	Weak transcription	HSMM	muscle
50	chr8:100203400-100206000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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