Variant report

Variant	rs78816944
Chromosome Location	chr8:91015543-91015544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:91012990-91015716	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000253394	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91013200-91015600	Active TSS	Right Atrium	heart
2	chr8:91014200-91015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:91014400-91015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:91014600-91015600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:91014600-91015600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:91014600-91015600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:91014600-91015600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:91014600-91015600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr8:91014600-91015800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr8:91014600-91015800	Flanking Active TSS	Dnd41	blood
11	chr8:91014600-91016200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr8:91014600-91017400	Weak transcription	Spleen	Spleen
13	chr8:91014600-91017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:91014600-91018000	Weak transcription	Aorta	Aorta
15	chr8:91014600-91021200	Weak transcription	Gastric	stomach
16	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:91014800-91015600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:91014800-91015600	Enhancers	Brain Germinal Matrix	brain
20	chr8:91014800-91015600	Weak transcription	Left Ventricle	heart
21	chr8:91014800-91015600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:91014800-91015600	Enhancers	Hela-S3	cervix
23	chr8:91014800-91015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:91014800-91015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:91014800-91015800	Weak transcription	Pancreas	Pancrea
26	chr8:91014800-91015800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:91014800-91015800	Enhancers	Stomach Mucosa	stomach
28	chr8:91014800-91016000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:91014800-91016000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:91014800-91016400	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:91014800-91016600	Weak transcription	HSMM	muscle
32	chr8:91014800-91017200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:91014800-91017200	Weak transcription	Lung	lung
34	chr8:91014800-91017600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:91014800-91018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:91014800-91018000	Weak transcription	Psoas Muscle	Psoas
37	chr8:91014800-91018000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:91014800-91018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:91014800-91018800	Weak transcription	Fetal Brain Female	brain
40	chr8:91014800-91022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:91014800-91022400	Weak transcription	Ovary	ovary
42	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
44	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
45	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
48	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon

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