Variant report

Variant	rs2288665
Chromosome Location	chr8:125730341-125730342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125621328..125624098-chr8:125728501..125730943,2	MCF-7	breast:
2	chr8:125707388..125710069-chr8:125729012..125730641,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12547578	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430850	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430852	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430853	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870920	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs729513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878684	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs891541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:125722200-125730600	Weak transcription	Fetal Stomach	stomach
3	chr8:125722200-125732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:125722600-125730800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:125722600-125732600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:125723800-125730800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:125724600-125732400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:125724600-125732400	Weak transcription	Esophagus	oesophagus
11	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:125724800-125730400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:125724800-125737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125725600-125735200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:125726200-125732400	Enhancers	HepG2	liver
16	chr8:125726800-125731000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:125726800-125734000	Weak transcription	Fetal Thymus	thymus
18	chr8:125727600-125732400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:125727600-125732800	Enhancers	Left Ventricle	heart
20	chr8:125727800-125730600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:125728000-125731600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:125728000-125732000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:125728000-125732600	Weak transcription	Fetal Intestine Large	intestine
24	chr8:125728000-125734800	Enhancers	Fetal Muscle Leg	muscle
25	chr8:125728200-125732000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:125728400-125730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:125728400-125732400	Weak transcription	K562	blood
28	chr8:125728400-125734800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:125728600-125732400	Weak transcription	Gastric	stomach
30	chr8:125728600-125732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:125728800-125731000	Weak transcription	Pancreas	Pancrea
32	chr8:125728800-125732000	Weak transcription	Stomach Mucosa	stomach
33	chr8:125728800-125732400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:125728800-125732400	Enhancers	Liver	Liver
35	chr8:125728800-125732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125728800-125732600	Enhancers	Primary B cells from cord blood	blood
37	chr8:125728800-125736400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:125729000-125730400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:125729000-125730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:125729000-125730400	Weak transcription	Brain Substantia Nigra	brain
41	chr8:125729000-125730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:125729000-125730600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:125729000-125731800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:125729000-125733000	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:125729200-125730600	Weak transcription	Right Atrium	heart
46	chr8:125729200-125732400	Weak transcription	Placenta	Placenta
47	chr8:125730000-125730600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:125730000-125731200	Enhancers	Fetal Brain Male	brain
49	chr8:125730000-125731400	Enhancers	Fetal Lung	lung
50	chr8:125730000-125731600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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