Variant report

Variant	rs61149287
Chromosome Location	chr8:125688106-125688107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125664797..125667579-chr8:125686939..125689871,2	K562	blood:
2	chr8:125687873..125690261-chr8:125731665..125733961,2	MCF-7	breast:
3	chr8:125680861..125685703-chr8:125685975..125688840,5	MCF-7	breast:
4	chr8:125687986..125690469-chr8:125810127..125812485,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10090511	0.81[ASN][1000 genomes]
rs11775638	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][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	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:125681200-125701000	Weak transcription	HMEC	breast
5	chr8:125685800-125694600	Weak transcription	Gastric	stomach
6	chr8:125686200-125688800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:125686200-125688800	Weak transcription	Brain Angular Gyrus	brain
8	chr8:125686200-125688800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:125686200-125688800	Weak transcription	Fetal Lung	lung
10	chr8:125686200-125689000	Weak transcription	Liver	Liver
11	chr8:125686200-125689400	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:125686200-125691000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:125686200-125691000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:125686200-125693000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:125686200-125694400	Weak transcription	Pancreas	Pancrea
16	chr8:125686200-125694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125686200-125695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125686200-125695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:125686200-125696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
21	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:125686400-125688600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:125686400-125688600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:125686400-125688800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125686400-125688800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:125686400-125688800	Weak transcription	Brain Substantia Nigra	brain
27	chr8:125686400-125689000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:125686400-125689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:125686400-125689000	Weak transcription	Fetal Stomach	stomach
30	chr8:125686400-125689200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:125686400-125691000	Weak transcription	HSMMtube	muscle
32	chr8:125686400-125692400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:125686400-125694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:125686400-125694400	Weak transcription	Esophagus	oesophagus
35	chr8:125686400-125694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
39	chr8:125686600-125688600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:125686600-125688800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:125686800-125689000	Weak transcription	Brain Germinal Matrix	brain
42	chr8:125686800-125689200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:125686800-125689600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:125686800-125692600	Weak transcription	Placenta	Placenta
45	chr8:125686800-125692800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:125686800-125694200	Weak transcription	Fetal Brain Female	brain
47	chr8:125686800-125694400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:125686800-125694600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:125687000-125688200	Genic enhancers	Primary B cells from peripheral blood	blood

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