Variant report

Variant	rs2692077
Chromosome Location	chr8:42808626-42808627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:42808605-42808627	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42808579..42810176-chr8:42817496..42820490,2	K562	blood:
2	chr8:42807156..42809247-chr8:42810999..42812969,2	K562	blood:

Variant related genes	Relation type
ENSG00000202514	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1081884	0.85[ASN][1000 genomes]
rs1081885	0.91[ASN][1000 genomes]
rs1081886	0.91[ASN][1000 genomes]
rs10958736	0.89[AMR][1000 genomes]
rs1625050	0.91[ASN][1000 genomes]
rs1648119	0.83[ASN][1000 genomes]
rs1648120	0.83[ASN][1000 genomes]
rs1648121	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2376490	0.80[AMR][1000 genomes]
rs28539345	0.83[ASN][1000 genomes]
rs28626408	0.89[AMR][1000 genomes]
rs4294230	0.89[AMR][1000 genomes]
rs6474429	0.86[AMR][1000 genomes]
rs6986338	0.83[ASN][1000 genomes]
rs7463608	0.86[AMR][1000 genomes]
rs773068	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs773069	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs773070	0.88[ASN][1000 genomes]
rs773071	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs773072	0.91[ASN][1000 genomes]
rs7812948	0.83[ASN][1000 genomes]
rs7831069	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7835435	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7838899	0.83[AMR][1000 genomes]
rs7841772	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:42772600-42815400	Weak transcription	Gastric	stomach
4	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
5	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
6	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
8	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
11	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
13	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:42788800-42814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:42788800-42815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:42789000-42815600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:42789800-42809800	Weak transcription	Ovary	ovary
22	chr8:42794000-42815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:42795600-42811200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:42795800-42814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:42795800-42815400	Weak transcription	Fetal Brain Male	brain
27	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:42796000-42809400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:42796000-42812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:42796000-42814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:42796000-42822200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:42796800-42811000	Strong transcription	Placenta	Placenta
33	chr8:42796800-42811400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:42796800-42811600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:42796800-42812600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:42797000-42811200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:42797000-42814200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:42798400-42811200	Strong transcription	Dnd41	blood
40	chr8:42798600-42810200	Weak transcription	K562	blood
41	chr8:42799000-42811400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:42799600-42814400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:42800400-42823600	Weak transcription	Hela-S3	cervix
44	chr8:42800800-42811400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:42801600-42814200	Weak transcription	Colonic Mucosa	Colon
46	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:42802400-42809600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:42802800-42811200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:42803000-42815400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:42803600-42812200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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