Variant report

Variant	rs7001539
Chromosome Location	chr8:48607767-48607768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16927307	0.96[YRI][hapmap]
rs17334340	0.83[AMR][1000 genomes]
rs57943847	0.90[AFR][1000 genomes]
rs58297550	0.81[AFR][1000 genomes]
rs58352423	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59656826	0.97[AFR][1000 genomes]
rs59697260	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7841661	0.92[ASW][hapmap];0.88[LWK][hapmap];0.84[YRI][hapmap]
rs8178217	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
6	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:48590600-48625200	Weak transcription	HepG2	liver
8	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
9	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
11	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
14	chr8:48596000-48607800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:48597000-48610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:48597000-48610400	Weak transcription	Ovary	ovary
17	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
19	chr8:48597200-48647200	Weak transcription	NHEK	skin
20	chr8:48597200-48647400	Weak transcription	HMEC	breast
21	chr8:48597400-48610200	Weak transcription	HSMM	muscle
22	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
25	chr8:48600000-48612600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:48600400-48612600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:48600400-48612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:48600400-48612800	Weak transcription	Dnd41	blood
29	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:48600800-48612800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:48601800-48613000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:48602400-48610200	Weak transcription	Placenta	Placenta
34	chr8:48602400-48612800	Weak transcription	Lung	lung
35	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:48602600-48612800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:48602800-48610400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:48603000-48614200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:48603400-48612600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:48604000-48613000	Weak transcription	Fetal Brain Female	brain
43	chr8:48604200-48608400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
45	chr8:48604400-48610200	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:48604400-48612800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
48	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
50	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum

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