Variant report

Variant	rs58679407
Chromosome Location	chr8:99738366-99738367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99736975..99738718-chr8:99836391..99838419,2	MCF-7	breast:
2	chr8:99735526..99738976-chr8:99742014..99743636,3	K562	blood:
3	chr8:99738155..99743366-chr8:99746593..99750391,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10955190	0.81[AMR][1000 genomes]
rs11785245	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13269932	0.81[AMR][1000 genomes]
rs13275915	0.83[AMR][1000 genomes]
rs13279438	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34855977	0.82[AMR][1000 genomes]
rs4131873	0.80[AMR][1000 genomes]
rs4279561	0.83[AMR][1000 genomes]
rs4292660	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4440607	0.83[AMR][1000 genomes]
rs4549741	0.83[AMR][1000 genomes]
rs4612309	0.81[AMR][1000 genomes]
rs4734414	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4735574	0.82[AMR][1000 genomes]
rs56126163	0.81[AMR][1000 genomes]
rs58993030	0.85[EUR][1000 genomes]
rs6988087	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818828	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7827435	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7845271	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99728200-99757200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:99736400-99739200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:99736400-99739400	Weak transcription	NHDF-Ad	bronchial
4	chr8:99736600-99738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:99736600-99746400	Weak transcription	K562	blood
6	chr8:99737000-99739200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:99737000-99740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:99737200-99738400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:99737200-99738400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:99737200-99739000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:99737400-99738400	Enhancers	Fetal Heart	heart
12	chr8:99737400-99738600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:99737400-99739600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:99737600-99739600	Enhancers	Fetal Intestine Large	intestine
15	chr8:99737600-99739800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99737800-99739000	Enhancers	HMEC	breast
17	chr8:99737800-99739600	Enhancers	HepG2	liver
18	chr8:99737800-99741000	Enhancers	Fetal Lung	lung
19	chr8:99738000-99738400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:99738000-99738400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:99738000-99738400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:99738000-99738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:99738000-99738400	Enhancers	Fetal Intestine Small	intestine
24	chr8:99738000-99738400	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:99738000-99738400	Flanking Active TSS	Hela-S3	cervix
26	chr8:99738000-99738400	Enhancers	HSMMtube	muscle
27	chr8:99738000-99738600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:99738000-99738600	Enhancers	HUVEC	blood vessel
29	chr8:99738000-99738800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:99738000-99738800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:99738000-99738800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:99738000-99738800	Enhancers	Adipose Nuclei	Adipose
33	chr8:99738000-99739000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:99738000-99739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:99738000-99739000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:99738000-99739000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:99738000-99739000	Flanking Active TSS	A549	lung
38	chr8:99738000-99739200	Enhancers	Fetal Stomach	stomach
39	chr8:99738000-99739200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:99738000-99739200	Enhancers	Stomach Mucosa	stomach
41	chr8:99738000-99739400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:99738000-99739600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:99738000-99739600	Enhancers	Psoas Muscle	Psoas
44	chr8:99738000-99739800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:99738000-99739800	Enhancers	NHEK	skin
46	chr8:99738000-99740200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:99738000-99740400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:99738000-99740600	Flanking Active TSS	GM12878-XiMat	blood
49	chr8:99738000-99740800	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:99738200-99738400	Flanking Active TSS	Liver	Liver

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