Variant report

Variant	rs58446058
Chromosome Location	chr8:54640851-54640852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54640318..54643345-chr8:54643961..54649280,5	MCF-7	breast:
2	chr8:54629241..54631291-chr8:54638690..54641108,3	MCF-7	breast:
3	chr8:54640506..54642635-chr8:54647079..54648821,2	K562	blood:
4	chr8:54632819..54637804-chr8:54638171..54641276,4	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16919513	1.00[EUR][1000 genomes]
rs16919526	1.00[EUR][1000 genomes]
rs16919566	1.00[EUR][1000 genomes]
rs41360051	1.00[EUR][1000 genomes]
rs56321533	1.00[EUR][1000 genomes]
rs57838567	1.00[EUR][1000 genomes]
rs59122208	1.00[EUR][1000 genomes]
rs59751066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61453862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61645849	1.00[AMR][1000 genomes]
rs6473892	1.00[EUR][1000 genomes]
rs6998009	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680307	1.00[EUR][1000 genomes]
rs73680309	0.94[AFR][1000 genomes]
rs73680313	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	1.00[EUR][1000 genomes]
rs73680348	0.88[AFR][1000 genomes]
rs73680349	0.88[AFR][1000 genomes]
rs73680350	0.88[AFR][1000 genomes]
rs73682538	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682550	1.00[EUR][1000 genomes]
rs73682553	1.00[AFR][1000 genomes]
rs73682559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845915	1.00[AMR][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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:54625400-54641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:54625400-54642000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:54625400-54642000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
15	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:54625600-54642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:54625600-54644400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:54627200-54642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:54627200-54644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:54627200-54645600	Weak transcription	Dnd41	blood
23	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
24	chr8:54627600-54645800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:54627600-54649000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:54628000-54645800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:54629400-54645400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:54629400-54647400	Weak transcription	Small Intestine	intestine
29	chr8:54630000-54644200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:54631200-54643600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:54633000-54648200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:54635000-54643600	Weak transcription	HepG2	liver
33	chr8:54635000-54644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:54635000-54648200	Weak transcription	Right Atrium	heart
35	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:54635200-54641200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
38	chr8:54636400-54641200	Weak transcription	Pancreas	Pancrea
39	chr8:54636400-54642000	Weak transcription	Esophagus	oesophagus
40	chr8:54636400-54643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:54636400-54644200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:54636400-54644400	Weak transcription	Gastric	stomach
43	chr8:54636400-54645000	Weak transcription	Aorta	Aorta
44	chr8:54636400-54649400	Weak transcription	Ovary	ovary
45	chr8:54637400-54648800	Strong transcription	Primary T cells from cord blood	blood
46	chr8:54638200-54641000	Weak transcription	GM12878-XiMat	blood
47	chr8:54638400-54645200	Weak transcription	Fetal Heart	heart
48	chr8:54638600-54648400	Weak transcription	Colonic Mucosa	Colon
49	chr8:54638800-54641800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:54639200-54646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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