Variant report

Variant	rs537778850
Chromosome Location	chr8:19673870-19673871
allele	A/G
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	chr8:19673822-19676071	HepG2	liver:	n/a	n/a
2	RFX5	chr8:19673569-19676511	SK-N-SH	brain:	n/a	chr8:19675658-19675673
3	TBP	chr8:19673722-19673992	K562	blood:	n/a	n/a
4	MXI1	chr8:19673637-19676331	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19670600-19674000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:19671400-19674000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:19672400-19674200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:19673600-19674000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:19673600-19674000	Enhancers	Brain Hippocampus Middle	brain
6	chr8:19673600-19674000	Flanking Active TSS	A549	lung
7	chr8:19673600-19674000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:19673600-19674400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:19673800-19674000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:19673800-19674000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:19673800-19674000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:19673800-19674000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:19673800-19674000	Enhancers	Primary B cells from cord blood	blood
17	chr8:19673800-19674000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:19673800-19674000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:19673800-19674000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:19673800-19674000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:19673800-19674000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:19673800-19674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:19673800-19674000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:19673800-19674000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:19673800-19674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:19673800-19674000	Enhancers	Brain Substantia Nigra	brain
29	chr8:19673800-19674000	Enhancers	Colon Smooth Muscle	Colon
30	chr8:19673800-19674000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:19673800-19674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:19673800-19674000	Enhancers	Fetal Brain Male	brain
33	chr8:19673800-19674000	Enhancers	Fetal Lung	lung
34	chr8:19673800-19674000	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:19673800-19674000	Enhancers	Fetal Muscle Leg	muscle
36	chr8:19673800-19674000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:19673800-19674000	Enhancers	Right Ventricle	heart
38	chr8:19673800-19674000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr8:19673800-19674000	Enhancers	HUVEC	blood vessel
40	chr8:19673800-19674000	Flanking Active TSS	K562	blood
41	chr8:19673800-19674000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr8:19673800-19674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:19673800-19674200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:19673800-19674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:19673800-19674200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:19673800-19674200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:19673800-19674200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:19673800-19674200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:19673800-19674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:19673800-19674200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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