Variant report

Variant	rs575378412
Chromosome Location	chr8:98996826-98996827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98994950..98998234-chr8:99001793..99004607,3	K562	blood:
2	chr8:98983972..98985766-chr8:98995097..98997700,2	MCF-7	breast:
3	chr8:98994617..98996981-chr8:99019389..99021453,2	MCF-7	breast:
4	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:
5	chr8:98929668..98932562-chr8:98996810..98999331,2	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
3	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
4	chr8:98989200-98997200	Weak transcription	Liver	Liver
5	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:98991000-98997800	Enhancers	Osteobl	bone
8	chr8:98992200-98998200	Enhancers	NHLF	lung
9	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:98994400-98997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:98994600-98997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:98994600-98997400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:98994600-98998000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:98994600-99014200	Weak transcription	Ovary	ovary
19	chr8:98995200-98998200	Enhancers	NHDF-Ad	bronchial
20	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
21	chr8:98995600-98997200	Enhancers	HSMMtube	muscle
22	chr8:98995600-98997600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:98995600-98997600	Enhancers	HSMM	muscle
24	chr8:98995800-98997000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:98995800-98997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:98995800-98997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:98995800-98997800	Enhancers	A549	lung
28	chr8:98995800-99003400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:98996000-98997000	Enhancers	HMEC	breast
30	chr8:98996000-98997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:98996000-98998200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:98996200-98997000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:98996200-98997000	Flanking Active TSS	NH-A	brain
34	chr8:98996200-98997800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:98996400-98997600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:98996400-98998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:98996400-99006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:98996600-98997000	Enhancers	NHEK	skin
39	chr8:98996600-99006800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:98996800-98997000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:98996800-98997600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:98996800-98997600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:98996800-98997800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:98996800-98997800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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