Variant report

Variant	rs60193291
Chromosome Location	chr8:95803934-95803935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95802094..95804612-chr8:95908589..95910245,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNE2-1	chr8:95803871-95804505	ENSG00000254307.1

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11986745	1.00[EUR][1000 genomes]
rs56098345	1.00[EUR][1000 genomes]
rs59200168	1.00[EUR][1000 genomes]
rs61259525	1.00[EUR][1000 genomes]
rs6986723	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7002309	1.00[EUR][1000 genomes]
rs73697035	1.00[EUR][1000 genomes]
rs73697036	1.00[EUR][1000 genomes]
rs73697037	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73697038	1.00[EUR][1000 genomes]
rs73697039	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73697040	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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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 target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
2	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
5	chr8:95752400-95809200	Weak transcription	NHLF	lung
6	chr8:95752600-95805600	Weak transcription	NHEK	skin
7	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
9	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:95785000-95804600	Weak transcription	Right Ventricle	heart
12	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:95785200-95805000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
16	chr8:95786200-95812800	Weak transcription	Gastric	stomach
17	chr8:95786400-95809600	Weak transcription	Lung	lung
18	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:95789200-95804400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:95789600-95804400	Strong transcription	Liver	Liver
21	chr8:95791200-95809600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:95791400-95806600	Weak transcription	Aorta	Aorta
23	chr8:95791400-95809800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:95791600-95809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
27	chr8:95792200-95809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:95793000-95804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:95794000-95809400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:95794000-95809600	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:95794200-95809800	Weak transcription	K562	blood
32	chr8:95794600-95805200	Weak transcription	A549	lung
33	chr8:95794600-95805800	Weak transcription	GM12878-XiMat	blood
34	chr8:95794600-95809000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:95794800-95805200	Weak transcription	HepG2	liver
36	chr8:95794800-95809200	Weak transcription	Fetal Kidney	kidney
37	chr8:95794800-95809400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:95794800-95809400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:95794800-95809400	Weak transcription	HMEC	breast
40	chr8:95794800-95809400	Weak transcription	NH-A	brain
41	chr8:95795800-95808800	Weak transcription	Fetal Brain Female	brain
42	chr8:95796400-95805200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:95797000-95805000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:95797800-95804000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:95797800-95809200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:95798000-95804200	Weak transcription	Hela-S3	cervix
47	chr8:95798000-95805200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:95798000-95809600	Weak transcription	Adipose Nuclei	Adipose
49	chr8:95798000-95810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:95798000-95810600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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