Variant report

Variant	rs373250780
Chromosome Location	chr1:161130416-161130417
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161128573-161130479	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:161128335-161130429	K562	blood:	n/a	n/a
3	POLR2A	chr1:161130236-161130932	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:161128550-161131005	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:161128754-161130534	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:161128410-161130469	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:161130128-161130886	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
2	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
3	chr1:160231832..160233674-chr1:161127837..161130606,2	MCF-7	breast:
4	chr1:161101050..161105947-chr1:161126092..161130683,11	K562	blood:
5	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
6	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
7	chr1:161085978..161089990-chr1:161127865..161134037,11	K562	blood:
8	chr1:161052998..161054950-chr1:161128036..161130636,2	MCF-7	breast:
9	chr1:161011414..161013032-chr1:161129851..161132212,2	K562	blood:
10	chr1:160989693..160991522-chr1:161127596..161130418,2	MCF-7	breast:
11	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
12	chr1:161085658..161090812-chr1:161125926..161133105,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224985	TF binding region
USP21	TF binding region
ENSG00000158793	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000228917	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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3489555	chr1:161129735-161131477	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
3	esv3489556	chr1:161129735-161131477	Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161128600-161130800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:161129600-161130600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:161129600-161130600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:161129600-161130800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:161129600-161130800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr1:161129600-161130800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:161129600-161131000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:161129600-161131000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:161129800-161130600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr1:161129800-161130600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr1:161129800-161130600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:161129800-161130600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:161129800-161130600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:161129800-161130600	Flanking Active TSS	Hela-S3	cervix
15	chr1:161129800-161133200	Transcr. at gene 5' and 3'	K562	blood
16	chr1:161129800-161135400	Weak transcription	Aorta	Aorta
17	chr1:161130000-161130600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:161130000-161130600	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:161130000-161130600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:161130000-161130600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:161130000-161130600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:161130000-161130600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr1:161130000-161130600	Enhancers	Gastric	stomach
24	chr1:161130000-161130600	Enhancers	Small Intestine	intestine
25	chr1:161130000-161130600	Enhancers	Spleen	Spleen
26	chr1:161130000-161131000	Enhancers	Left Ventricle	heart
27	chr1:161130000-161131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:161130000-161131400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:161130000-161135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:161130200-161130600	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:161130200-161130600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:161130200-161130600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
33	chr1:161130200-161130600	Enhancers	Fetal Kidney	kidney
34	chr1:161130200-161130600	Enhancers	Fetal Thymus	thymus
35	chr1:161130200-161130600	Enhancers	HUVEC	blood vessel
36	chr1:161130200-161130800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:161130200-161130800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:161130200-161130800	Enhancers	Ovary	ovary
39	chr1:161130200-161130800	Genic enhancers	Right Ventricle	heart
40	chr1:161130200-161131000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:161130200-161131000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:161130200-161131000	Enhancers	Liver	Liver
43	chr1:161130200-161131000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:161130200-161131000	Enhancers	HMEC	breast
45	chr1:161130200-161131200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:161130200-161131200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr1:161130200-161131400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:161130200-161131400	Enhancers	Stomach Mucosa	stomach
49	chr1:161130200-161131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:161130200-161131800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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