Variant report

Variant	rs59060675
Chromosome Location	chr8:100803304-100803305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100798684..100800613-chr8:100802187..100804847,2	K562	blood:
2	chr8:100801630..100804295-chr8:100808992..100812457,3	MCF-7	breast:
3	chr8:100802088..100804215-chr8:100810612..100813466,2	K562	blood:

Variant related genes	Relation type
ENSG00000253539	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16892266	1.00[AFR][1000 genomes]
rs16897555	0.86[AFR][1000 genomes]
rs16897575	0.97[AFR][1000 genomes]
rs16897584	1.00[AFR][1000 genomes]
rs16897587	1.00[AFR][1000 genomes]
rs16897589	1.00[AFR][1000 genomes]
rs16897595	1.00[AFR][1000 genomes]
rs16897612	1.00[AFR][1000 genomes]
rs16897617	1.00[AFR][1000 genomes]
rs16897621	1.00[AFR][1000 genomes]
rs16897638	1.00[AFR][1000 genomes]
rs16897642	1.00[AFR][1000 genomes]
rs16897651	0.95[AFR][1000 genomes]
rs16897718	0.97[AFR][1000 genomes]
rs1979116	0.97[AFR][1000 genomes]
rs2187191	1.00[AFR][1000 genomes]
rs57286336	0.88[AFR][1000 genomes]
rs57560513	1.00[AFR][1000 genomes]
rs57905511	1.00[AFR][1000 genomes]
rs896008	1.00[AFR][1000 genomes]

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	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
6	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:100775000-100822400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:100776600-100805800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:100777600-100807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:100777600-100809600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:100777800-100807200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:100778000-100806400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
10	chr8:100780400-100810200	Weak transcription	Aorta	Aorta
11	chr8:100780400-100810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:100780400-100816400	Weak transcription	Lung	lung
13	chr8:100780600-100810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
15	chr8:100783200-100858200	Weak transcription	Gastric	stomach
16	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:100785200-100807400	Weak transcription	K562	blood
18	chr8:100787600-100812200	Weak transcription	Fetal Thymus	thymus
19	chr8:100787800-100804000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:100787800-100831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:100788000-100804600	Weak transcription	Placenta	Placenta
22	chr8:100789600-100803800	Weak transcription	GM12878-XiMat	blood
23	chr8:100789600-100842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:100789800-100808000	Weak transcription	Osteobl	bone
25	chr8:100791200-100804000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:100791200-100807200	Weak transcription	Fetal Heart	heart
27	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:100791600-100805000	Weak transcription	HSMM	muscle
29	chr8:100791600-100806200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:100791600-100812600	Weak transcription	Brain Anterior Caudate	brain
31	chr8:100792200-100808200	Weak transcription	Fetal Brain Female	brain
32	chr8:100792200-100810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:100793000-100807800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:100795400-100810800	Weak transcription	NHDF-Ad	bronchial
35	chr8:100796200-100810400	Weak transcription	NHLF	lung
36	chr8:100797000-100816400	Weak transcription	Esophagus	oesophagus
37	chr8:100797200-100807800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:100797200-100824400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:100797400-100804800	Weak transcription	HSMMtube	muscle
40	chr8:100797400-100806200	Weak transcription	HMEC	breast
41	chr8:100797400-100807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:100797400-100821600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:100797600-100806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:100797600-100829800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:100798200-100803400	Weak transcription	Small Intestine	intestine
46	chr8:100798200-100822200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:100798400-100807400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:100798400-100816400	Weak transcription	Pancreas	Pancrea
49	chr8:100798400-100823400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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