Variant report

Variant	rs10090511
Chromosome Location	chr8:125702256-125702257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125653538..125655457-chr8:125699736..125702279,2	K562	blood:
2	chr8:125695281..125696989-chr8:125701339..125704256,2	MCF-7	breast:
3	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:
4	chr8:125698153..125699926-chr8:125701399..125703514,2	MCF-7	breast:
5	chr8:125700027..125702376-chr8:125709128..125711425,2	K562	blood:
6	chr8:125697510..125699727-chr8:125700656..125702402,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10956195	0.90[EUR][1000 genomes]
rs10956197	0.83[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs2116082	0.88[EUR][1000 genomes]
rs3857954	0.83[CEU][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs61149287	0.81[ASN][1000 genomes]
rs62530739	0.86[EUR][1000 genomes]
rs6998715	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3371789	chr8:125698371-125702569	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:125695000-125704800	Weak transcription	Gastric	stomach
3	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
4	chr8:125696800-125702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:125696800-125702800	Enhancers	Fetal Heart	heart
6	chr8:125697600-125703000	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:125697600-125703000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:125697800-125704000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125698200-125703000	Enhancers	Fetal Thymus	thymus
10	chr8:125699000-125702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:125699200-125703000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:125699600-125702800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:125700200-125702400	Enhancers	Osteobl	bone
14	chr8:125700200-125702800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:125700400-125702600	Enhancers	A549	lung
16	chr8:125700400-125703600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:125700400-125704600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:125700600-125702400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:125700600-125702600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:125700600-125702800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:125700600-125702800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:125700600-125702800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:125700600-125703000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125700600-125703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:125700600-125703400	Enhancers	Brain Substantia Nigra	brain
26	chr8:125700600-125704200	Weak transcription	Colonic Mucosa	Colon
27	chr8:125700600-125704400	Enhancers	Liver	Liver
28	chr8:125700600-125705800	Enhancers	HepG2	liver
29	chr8:125700800-125702400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:125700800-125702800	Enhancers	Primary B cells from cord blood	blood
31	chr8:125700800-125702800	Enhancers	Primary T cells from cord blood	blood
32	chr8:125700800-125702800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:125700800-125702800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:125700800-125702800	Enhancers	Fetal Lung	lung
35	chr8:125700800-125703000	Enhancers	Brain Germinal Matrix	brain
36	chr8:125700800-125703400	Enhancers	Fetal Brain Male	brain
37	chr8:125701000-125702400	Enhancers	Brain Anterior Caudate	brain
38	chr8:125701000-125703000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr8:125701000-125703600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:125701000-125704600	Weak transcription	Small Intestine	intestine
41	chr8:125701000-125704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:125701000-125704800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:125701200-125703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:125701200-125703000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:125701200-125703000	Enhancers	NHLF	lung
47	chr8:125701200-125704200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:125701200-125704800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:125701200-125704800	Weak transcription	K562	blood
50	chr8:125701200-125705000	Weak transcription	Fetal Brain Female	brain

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