Variant report

Variant	rs575170483
Chromosome Location	chr8:103822505-103822506
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
2	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
3	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
4	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:
5	chr8:103241583..103244347-chr8:103821474..103823149,2	K562	blood:
6	chr8:103758707..103761141-chr8:103820912..103822776,2	MCF-7	breast:
7	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
8	chr14:73525108..73526850-chr8:103822146..103823789,2	MCF-7	breast:
9	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
10	chr8:103672018..103673821-chr8:103819669..103822518,2	K562	blood:
11	chr2:208036628..208038227-chr8:103821517..103823271,2	MCF-7	breast:
12	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
13	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
14	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
15	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
16	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
17	chr8:103446967..103449088-chr8:103820705..103822908,2	MCF-7	breast:
18	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
19	chr8:103696488..103698955-chr8:103820136..103822762,2	MCF-7	breast:
20	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
21	chr10:107297880..107298668-chr8:103822352..103823075,2	MCF-7	breast:
22	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
23	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
24	chr8:103441212..103444184-chr8:103820683..103822944,2	MCF-7	breast:
25	chr8:103643403..103646605-chr8:103821191..103823533,3	MCF-7	breast:
26	chr8:103672172..103673821-chr8:103821018..103822916,2	K562	blood:
27	chr8:103597261..103598173-chr8:103822316..103823433,4	MCF-7	breast:
28	chr8:103732314..103735050-chr8:103822307..103824951,2	MCF-7	breast:
29	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
30	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
31	chr8:103768653..103771082-chr8:103821061..103822803,2	K562	blood:
32	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
33	chr8:103822430..103824657-chr8:104048690..104050803,2	MCF-7	breast:
34	chr8:103520610..103522494-chr8:103820924..103823364,2	MCF-7	breast:
35	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
36	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
37	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
38	chr8:103634893..103636918-chr8:103821409..103822917,2	MCF-7	breast:
39	chr8:103703111..103704923-chr8:103821705..103823868,2	K562	blood:
40	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
41	chr8:103666345..103667557-chr8:103822272..103823530,3	MCF-7	breast:
42	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
43	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
44	chr8:103705965..103707674-chr8:103821217..103823842,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258813	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:103819200-103822800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:103819400-103822600	Flanking Active TSS	A549	lung
4	chr8:103819400-103822600	Flanking Active TSS	Hela-S3	cervix
5	chr8:103819400-103822800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr8:103819600-103822600	Weak transcription	Ovary	ovary
7	chr8:103819800-103823000	Enhancers	Fetal Heart	heart
8	chr8:103819800-103823400	Enhancers	Stomach Mucosa	stomach
9	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:103820200-103823000	Enhancers	Brain Substantia Nigra	brain
11	chr8:103820800-103822600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr8:103821000-103822600	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr8:103821400-103823200	Weak transcription	Fetal Kidney	kidney
14	chr8:103821600-103822600	Flanking Active TSS	Placenta	Placenta
15	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:103821800-103822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103821800-103822600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:103822000-103823200	Active TSS	HepG2	liver
19	chr8:103822200-103822600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr8:103822200-103822600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:103822200-103822600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:103822200-103822600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:103822200-103822600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:103822200-103822600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:103822200-103822600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr8:103822200-103822600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:103822200-103822600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:103822200-103822600	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr8:103822200-103822600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:103822200-103822600	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:103822200-103822600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr8:103822200-103822600	Flanking Active TSS	NHLF	lung
33	chr8:103822200-103822600	Flanking Active TSS	Osteobl	bone
34	chr8:103822200-103822800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr8:103822200-103822800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr8:103822200-103822800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr8:103822200-103822800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:103822200-103822800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:103822200-103822800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:103822200-103822800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:103822200-103822800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:103822200-103822800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr8:103822200-103822800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr8:103822200-103822800	Flanking Active TSS	HMEC	breast
45	chr8:103822200-103822800	Flanking Active TSS	HUVEC	blood vessel
46	chr8:103822200-103822800	Flanking Active TSS	K562	blood
47	chr8:103822200-103822800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:103822200-103822800	Flanking Active TSS	NHEK	skin
49	chr8:103822200-103823000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:103822200-103823400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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