Variant report

Variant	rs28395411
Chromosome Location	chr8:96078762-96078763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:46129164..46131854-chr8:96077259..96079857,2	MCF-7	breast:
2	chr8:96077808..96080245-chr8:96234205..96235808,2	MCF-7	breast:
3	chr8:96037219..96038721-chr8:96077745..96080325,2	MCF-7	breast:
4	chr8:96078349..96080804-chr8:96101841..96104257,3	K562	blood:
5	chr8:96071292..96073984-chr8:96078454..96081250,3	K562	blood:
6	chr8:96035647..96037410-chr8:96078050..96080664,2	K562	blood:
7	chr8:96078172..96080522-chr8:96236324..96239006,2	MCF-7	breast:
8	chr8:95960626..95963944-chr8:96078458..96081828,4	MCF-7	breast:
9	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
10	chr8:96076049..96080036-chr8:96278718..96282595,5	MCF-7	breast:
11	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
12	chr8:96078403..96080929-chr8:96218241..96220291,2	MCF-7	breast:
13	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:
14	chr8:96076398..96079120-chr8:96079944..96081555,2	K562	blood:
15	chr8:96075220..96081525-chr8:96145144..96151005,16	MCF-7	breast:
16	chr8:95961629..95965113-chr8:96078252..96080869,3	MCF-7	breast:
17	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
18	chr8:96035307..96037631-chr8:96076077..96079417,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124151	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253878	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10090057	1.00[EUR][1000 genomes]
rs10090293	1.00[EUR][1000 genomes]
rs10095570	1.00[EUR][1000 genomes]
rs10095895	1.00[EUR][1000 genomes]
rs10095935	1.00[EUR][1000 genomes]
rs10096991	1.00[EUR][1000 genomes]
rs10097190	1.00[EUR][1000 genomes]
rs10097223	1.00[EUR][1000 genomes]
rs10100838	1.00[EUR][1000 genomes]
rs10101843	1.00[EUR][1000 genomes]
rs10107910	1.00[EUR][1000 genomes]
rs10108090	1.00[EUR][1000 genomes]
rs10109093	1.00[EUR][1000 genomes]
rs10110511	1.00[EUR][1000 genomes]
rs10111383	1.00[EUR][1000 genomes]
rs10956935	1.00[EUR][1000 genomes]
rs12334742	1.00[EUR][1000 genomes]
rs28411864	1.00[EUR][1000 genomes]
rs28538579	1.00[EUR][1000 genomes]
rs28573244	1.00[EUR][1000 genomes]
rs28620649	1.00[EUR][1000 genomes]
rs28645447	1.00[EUR][1000 genomes]
rs28785859	1.00[EUR][1000 genomes]
rs58297413	1.00[EUR][1000 genomes]
rs59279108	1.00[EUR][1000 genomes]
rs59353178	1.00[EUR][1000 genomes]
rs60724818	1.00[EUR][1000 genomes]
rs61910718	1.00[EUR][1000 genomes]
rs7000577	1.00[EUR][1000 genomes]
rs7013875	1.00[EUR][1000 genomes]
rs73276462	1.00[EUR][1000 genomes]
rs73276471	1.00[EUR][1000 genomes]
rs73276474	1.00[EUR][1000 genomes]
rs73276483	1.00[EUR][1000 genomes]
rs73276487	1.00[EUR][1000 genomes]
rs73276494	1.00[EUR][1000 genomes]
rs73276495	1.00[EUR][1000 genomes]
rs73276497	1.00[EUR][1000 genomes]
rs73276498	1.00[EUR][1000 genomes]
rs73278508	1.00[EUR][1000 genomes]
rs73278511	1.00[EUR][1000 genomes]
rs73278524	1.00[EUR][1000 genomes]
rs7839513	1.00[EUR][1000 genomes]
rs877351	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
2	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
4	chr8:96062600-96079000	Weak transcription	NHLF	lung
5	chr8:96062600-96079800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:96062800-96079200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:96062800-96079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:96063200-96078800	Weak transcription	HSMM	muscle
10	chr8:96063200-96078800	Weak transcription	NH-A	brain
11	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:96064000-96079800	Weak transcription	Brain Substantia Nigra	brain
14	chr8:96064400-96078800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:96064800-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
18	chr8:96070600-96078800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:96070600-96079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:96070600-96079800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:96070600-96079800	Weak transcription	Esophagus	oesophagus
22	chr8:96070600-96079800	Weak transcription	Spleen	Spleen
23	chr8:96071000-96079200	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:96071000-96080000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:96071000-96080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:96071200-96078800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:96071200-96079600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:96071200-96079800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:96071200-96079800	Weak transcription	Right Ventricle	heart
30	chr8:96071200-96080600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:96071400-96079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:96071400-96079800	Weak transcription	Lung	lung
35	chr8:96071600-96078800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:96071600-96078800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:96071600-96078800	Weak transcription	A549	lung
38	chr8:96071600-96079800	Weak transcription	Fetal Thymus	thymus
39	chr8:96071600-96081200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:96071600-96083000	Weak transcription	Primary B cells from cord blood	blood
41	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood
42	chr8:96071800-96079200	Weak transcription	Dnd41	blood
43	chr8:96071800-96079800	Weak transcription	Fetal Lung	lung
44	chr8:96071800-96083200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:96071800-96084800	Weak transcription	Thymus	Thymus
46	chr8:96072000-96079400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:96073400-96079600	Weak transcription	Left Ventricle	heart
49	chr8:96074800-96079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:96074800-96081400	Enhancers	Stomach Mucosa	stomach

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