Variant report

Variant	rs28609750
Chromosome Location	chr8:126245539-126245540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126245389..126247253-chr8:126445841..126448736,2	MCF-7	breast:
2	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
3	chr8:126243523..126245735-chr8:126346026..126348956,2	MCF-7	breast:
4	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10090983	1.00[EUR][1000 genomes]
rs10094940	1.00[EUR][1000 genomes]
rs10100523	1.00[EUR][1000 genomes]
rs10101223	1.00[EUR][1000 genomes]
rs10104088	1.00[EUR][1000 genomes]
rs10105662	1.00[EUR][1000 genomes]
rs10111234	1.00[EUR][1000 genomes]
rs10111919	1.00[EUR][1000 genomes]
rs11996045	1.00[EUR][1000 genomes]
rs28502126	1.00[EUR][1000 genomes]
rs28620783	1.00[EUR][1000 genomes]
rs28786389	1.00[EUR][1000 genomes]
rs3849808	1.00[EUR][1000 genomes]
rs56704677	1.00[EUR][1000 genomes]
rs57062304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004396	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348137	1.00[EUR][1000 genomes]
rs73704932	1.00[EUR][1000 genomes]
rs73704933	1.00[EUR][1000 genomes]
rs73704935	1.00[EUR][1000 genomes]
rs73704936	1.00[EUR][1000 genomes]
rs73704952	1.00[EUR][1000 genomes]
rs7840900	0.89[AFR][1000 genomes];1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126249600	Weak transcription	Gastric	stomach
3	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
4	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126239800-126246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
9	chr8:126241000-126246000	Weak transcription	Ovary	ovary
10	chr8:126241000-126247000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
12	chr8:126241200-126251200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:126241600-126245600	Enhancers	A549	lung
15	chr8:126241600-126246800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:126242400-126246000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:126242400-126246000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:126242400-126246200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:126242600-126245600	Enhancers	HMEC	breast
20	chr8:126242800-126246000	Enhancers	Hela-S3	cervix
21	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
22	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:126243400-126245600	Enhancers	HepG2	liver
24	chr8:126243600-126253400	Weak transcription	Primary B cells from cord blood	blood
25	chr8:126243800-126246600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:126243800-126246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:126243800-126246800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:126243800-126246800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:126243800-126246800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:126244200-126247000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:126244600-126245600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:126244600-126245600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:126244800-126245600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:126244800-126245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:126244800-126245600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:126244800-126245600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:126244800-126245600	Enhancers	NHDF-Ad	bronchial
38	chr8:126244800-126245600	Enhancers	Osteobl	bone
39	chr8:126244800-126247200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:126245200-126245600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:126245200-126245600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:126245200-126245600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr8:126245200-126245600	Enhancers	Fetal Intestine Small	intestine
44	chr8:126245200-126245600	Enhancers	NH-A	brain
45	chr8:126245400-126256200	Weak transcription	HSMM	muscle

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