Variant report

Variant	rs73278883
Chromosome Location	chr8:103793117-103793118
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103786553..103789448-chr8:103790120..103793289,3	K562	blood:
2	chr8:103786719..103790690-chr8:103792046..103795484,6	MCF-7	breast:
3	chr8:103791875..103793550-chr8:103817572..103819297,2	K562	blood:
4	chr8:103793090..103794674-chr8:103795645..103798018,2	MCF-7	breast:
5	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
6	chr8:103676147..103677915-chr8:103792093..103794754,2	K562	blood:
7	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
8	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56724276	1.00[AFR][1000 genomes]
rs60538892	0.85[AFR][1000 genomes]
rs73278884	0.85[AFR][1000 genomes]
rs73278887	0.85[AFR][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	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	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103780600-103794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:103781600-103793800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:103782800-103794600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:103783000-103793800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:103786800-103793800	Weak transcription	Aorta	Aorta
6	chr8:103786800-103793800	Weak transcription	Right Ventricle	heart
7	chr8:103786800-103801000	Weak transcription	Small Intestine	intestine
8	chr8:103787000-103794200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:103787200-103799800	Weak transcription	HMEC	breast
10	chr8:103787400-103793400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:103787600-103793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:103787800-103795000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:103789200-103793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:103789200-103793600	Weak transcription	Pancreas	Pancrea
15	chr8:103789200-103793800	Weak transcription	Lung	lung
16	chr8:103789200-103794400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:103789200-103794600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103789200-103795000	Weak transcription	K562	blood
19	chr8:103789200-103800400	Weak transcription	Gastric	stomach
20	chr8:103789400-103793400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:103789400-103793400	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:103789400-103793400	Weak transcription	Ovary	ovary
23	chr8:103789400-103793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:103789400-103793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:103789400-103793600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:103789400-103793600	Weak transcription	Fetal Stomach	stomach
27	chr8:103789400-103793600	Weak transcription	Right Atrium	heart
28	chr8:103789400-103793600	Weak transcription	Spleen	Spleen
29	chr8:103789400-103793800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:103789400-103793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:103789400-103794000	Weak transcription	Fetal Heart	heart
32	chr8:103789400-103794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:103789400-103794800	Weak transcription	Esophagus	oesophagus
34	chr8:103789400-103800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:103789400-103800400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:103789600-103793400	Weak transcription	Adipose Nuclei	Adipose
37	chr8:103789600-103793400	Weak transcription	A549	lung
38	chr8:103789600-103793600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:103789600-103794000	Weak transcription	Liver	Liver
40	chr8:103789600-103794800	Weak transcription	Fetal Lung	lung
41	chr8:103789600-103794800	Weak transcription	Left Ventricle	heart
42	chr8:103789800-103793600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:103790400-103793200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:103790400-103793400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:103790600-103793200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:103790800-103793200	Weak transcription	HepG2	liver
47	chr8:103791800-103793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:103792000-103793400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:103792800-103797400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:103793000-103793600	Enhancers	Fetal Thymus	thymus

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