Variant report

Variant	rs59522447
Chromosome Location	chr8:100087716-100087717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100087357..100089175-chr8:100091437..100093600,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56345420	1.00[AFR][1000 genomes]
rs73699963	1.00[AFR][1000 genomes]
rs73699986	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	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
15	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	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
17	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	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
19	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100049200-100088200	Weak transcription	HSMM	muscle
2	chr8:100051400-100100400	Weak transcription	Osteobl	bone
3	chr8:100051800-100088000	Weak transcription	A549	lung
4	chr8:100065600-100089600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:100066600-100088000	Weak transcription	NHDF-Ad	bronchial
6	chr8:100066600-100094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:100067600-100088400	Weak transcription	NHEK	skin
8	chr8:100068400-100088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:100074400-100088200	Weak transcription	K562	blood
10	chr8:100076400-100090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:100076600-100089600	Weak transcription	Colonic Mucosa	Colon
12	chr8:100076800-100088400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:100076800-100088400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:100076800-100088800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:100076800-100089200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:100077000-100090000	Weak transcription	Fetal Kidney	kidney
17	chr8:100078200-100103200	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:100079800-100089800	Weak transcription	Fetal Brain Male	brain
19	chr8:100081600-100091000	Weak transcription	Pancreas	Pancrea
20	chr8:100083200-100087800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr8:100083400-100088000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:100084000-100088200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:100084000-100089400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:100084400-100089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:100084600-100089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:100084600-100089000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:100084600-100089400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:100084600-100089400	Weak transcription	Left Ventricle	heart
29	chr8:100084600-100089400	Weak transcription	Ovary	ovary
30	chr8:100084600-100089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:100084600-100092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:100084600-100099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:100084600-100102200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:100084800-100087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:100084800-100087800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:100084800-100087800	Weak transcription	Thymus	Thymus
37	chr8:100084800-100088200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:100084800-100089200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:100084800-100089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:100084800-100089400	Weak transcription	Aorta	Aorta
41	chr8:100084800-100090600	Weak transcription	Spleen	Spleen
42	chr8:100084800-100091000	Weak transcription	Gastric	stomach
43	chr8:100084800-100092400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:100084800-100100600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:100085200-100089000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:100085400-100089400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:100085400-100089400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:100085400-100093000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:100086200-100089400	Weak transcription	Fetal Stomach	stomach
50	chr8:100086800-100089400	Weak transcription	Fetal Intestine Small	intestine

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