Variant report

Variant	rs28502126
Chromosome Location	chr8:126341006-126341007
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126339856..126342634-chr8:126343461..126345353,2	MCF-7	breast:
2	chr8:126326083..126327600-chr8:126340385..126341947,2	K562	blood:
3	chr8:126288880..126291551-chr8:126340107..126343091,2	K562	blood:
4	chr8:126338417..126342692-chr8:126345063..126348300,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10088674	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111234	1.00[EUR][1000 genomes]
rs10111261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10481154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994181	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004396	1.00[EUR][1000 genomes]
rs73348137	1.00[EUR][1000 genomes]
rs73704922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	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	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
2	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126329400-126344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126331800-126341400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:126332400-126345600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
10	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
11	chr8:126335600-126346000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
13	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
14	chr8:126339000-126342400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126339400-126346200	Weak transcription	Thymus	Thymus
16	chr8:126340000-126341600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:126340000-126341600	Enhancers	A549	lung
18	chr8:126340000-126341600	Enhancers	NHDF-Ad	bronchial
19	chr8:126340000-126341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
21	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:126340200-126341600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:126340200-126341600	Enhancers	NH-A	brain
24	chr8:126340200-126341600	Enhancers	Osteobl	bone
25	chr8:126340200-126342000	Enhancers	HSMMtube	muscle
26	chr8:126340200-126342200	Enhancers	Fetal Heart	heart
27	chr8:126340400-126341400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:126340600-126341200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:126340600-126341400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:126340600-126341400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:126340600-126341400	Enhancers	Psoas Muscle	Psoas
32	chr8:126340600-126341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:126340600-126341600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:126340600-126341600	Enhancers	Adipose Nuclei	Adipose
35	chr8:126340600-126341600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:126340600-126341600	Enhancers	HSMM	muscle
37	chr8:126340600-126341600	Enhancers	K562	blood
38	chr8:126340600-126341600	Enhancers	NHLF	lung
39	chr8:126340600-126341800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:126340600-126341800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:126340600-126342000	Enhancers	Left Ventricle	heart
42	chr8:126340800-126341600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:126340800-126342800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:126340800-126344200	Enhancers	GM12878-XiMat	blood
45	chr8:126340800-126346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:126340800-126347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:126341000-126341400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:126341000-126341400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:126341000-126341400	Enhancers	Right Atrium	heart
50	chr8:126341000-126341600	Enhancers	Fetal Muscle Trunk	muscle

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