Variant report

Variant	rs74994009
Chromosome Location	chr8:96080013-96080014
allele	A/G
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96077808..96080245-chr8:96234205..96235808,2	MCF-7	breast:
2	chr17:57915678..57917429-chr8:96079112..96080847,2	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	chr8:96079089..96080992-chr8:96128939..96131322,2	MCF-7	breast:
9	chr8:95960626..95963944-chr8:96078458..96081828,4	MCF-7	breast:
10	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
11	chr8:96076049..96080036-chr8:96278718..96282595,5	MCF-7	breast:
12	chr8:96076398..96079120-chr8:96079944..96081555,2	K562	blood:
13	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
14	chr8:96078403..96080929-chr8:96218241..96220291,2	MCF-7	breast:
15	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
16	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:
17	chr8:96079167..96081297-chr8:96267070..96269403,2	MCF-7	breast:
18	chr8:96075220..96081525-chr8:96145144..96151005,16	MCF-7	breast:
19	chr8:96079160..96082761-chr8:96145231..96147675,3	K562	blood:
20	chr8:96079846..96082376-chr8:96152010..96153617,2	MCF-7	breast:
21	chr8:96079753..96081863-chr8:96250255..96253131,2	MCF-7	breast:
22	chr8:95961629..95965113-chr8:96078252..96080869,3	MCF-7	breast:
23	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
24	chr8:96079008..96081719-chr8:96123344..96126236,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-1	chr8:96079036-96081463	ENSG00000245080

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
5	esv12665	chr8:96079304-96081691	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1809201	chr8:96079879-96081568	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809397	chr8:96079879-96081568	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1809522	chr8:96079879-96081568	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1810707	chr8:96079879-96081568	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1811213	chr8:96079879-96081568	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1812870	chr8:96079879-96081568	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv1814274	chr8:96079879-96081568	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv1808302	chr8:96079879-96085479	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
3	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
8	chr8:96071200-96080600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:96071600-96081200	Weak transcription	Brain Germinal Matrix	brain
12	chr8:96071600-96083000	Weak transcription	Primary B cells from cord blood	blood
13	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood
14	chr8:96071800-96083200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:96071800-96084800	Weak transcription	Thymus	Thymus
16	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:96074800-96081400	Enhancers	Stomach Mucosa	stomach
18	chr8:96075000-96080400	Weak transcription	Fetal Kidney	kidney
19	chr8:96075000-96081200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:96075200-96080200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:96075200-96084800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:96076600-96081000	Enhancers	Fetal Intestine Large	intestine
23	chr8:96076800-96081200	Enhancers	Fetal Intestine Small	intestine
24	chr8:96076800-96081400	Enhancers	Placenta	Placenta
25	chr8:96077600-96084400	Weak transcription	Gastric	stomach
26	chr8:96078200-96081400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:96078200-96081600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:96078200-96081800	Enhancers	HMEC	breast
29	chr8:96078400-96081400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:96078600-96080200	Enhancers	Liver	Liver
31	chr8:96078600-96082000	Weak transcription	Aorta	Aorta
32	chr8:96078800-96081200	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:96078800-96081200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr8:96078800-96081400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:96079200-96080200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:96079200-96081800	Enhancers	NHEK	skin
37	chr8:96079400-96080200	Flanking Active TSS	HepG2	liver
38	chr8:96079400-96081400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:96079400-96081400	Weak transcription	HUVEC	blood vessel
40	chr8:96079400-96081800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:96079600-96080200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:96079600-96080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:96079600-96080200	Weak transcription	Osteobl	bone
44	chr8:96079600-96080600	Flanking Active TSS	K562	blood
45	chr8:96079600-96080800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:96079600-96081200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:96079600-96081600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:96079800-96080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:96079800-96080200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:96079800-96080200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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