Variant report

Variant	rs563751568
Chromosome Location	chr1:62902839-62902840
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62902386..62902894-chr1:109505676..109506461,2	Hela-S3	cervix:
2	chr1:62902375..62903206-chr5:33440291..33440920,2	Hela-S3	cervix:
3	chr1:62902411..62903391-chr16:18812321..18813080,2	Hela-S3	cervix:
4	chr1:62901903..62904232-chr1:63787330..63789698,2	K562	blood:
5	chr1:61519005..61521478-chr1:62902730..62905153,2	K562	blood:
6	chr1:62902399..62903321-chr19:13262222..13262923,2	Hela-S3	cervix:
7	chr1:62901585..62903674-chr1:62993916..62996899,2	MCF-7	breast:
8	chr1:62902647..62903450-chr7:17979863..17980622,2	Hela-S3	cervix:
9	chr1:62901788..62902842-chr1:167905408..167906072,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000187140	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000230798	Chromatin interaction
ENSG00000121940	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000162641	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000270549	Chromatin interaction
ENSG00000071189	Chromatin interaction
ENSG00000160888	Chromatin interaction
ENSG00000249572	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:62900400-62904200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62901000-62903000	Active TSS	Brain Germinal Matrix	brain
3	chr1:62901000-62903400	Active TSS	HSMMtube	muscle
4	chr1:62901000-62903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:62901000-62903600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:62901000-62903800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:62901000-62903800	Active TSS	Fetal Lung	lung
8	chr1:62901000-62904000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:62901000-62904000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:62901000-62904200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:62901000-62904200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:62901000-62904400	Active TSS	Psoas Muscle	Psoas
13	chr1:62901000-62904600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:62901000-62904600	Active TSS	Fetal Kidney	kidney
15	chr1:62901000-62904600	Active TSS	Right Ventricle	heart
16	chr1:62901000-62904800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:62901000-62904800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:62901000-62904800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:62901000-62905000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:62901000-62905000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:62901000-62905000	Active TSS	HSMM	muscle
22	chr1:62901000-62905200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:62901000-62905200	Active TSS	A549	lung
24	chr1:62901000-62905600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:62901000-62905800	Active TSS	NHLF	lung
26	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
27	chr1:62901200-62903600	Active TSS	Brain Substantia Nigra	brain
28	chr1:62901200-62903600	Active TSS	Spleen	Spleen
29	chr1:62901200-62903800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:62901200-62904000	Active TSS	Colonic Mucosa	Colon
31	chr1:62901200-62904000	Active TSS	Lung	lung
32	chr1:62901200-62904000	Active TSS	Small Intestine	intestine
33	chr1:62901200-62904200	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:62901200-62904200	Active TSS	Left Ventricle	heart
35	chr1:62901200-62904200	Active TSS	Ovary	ovary
36	chr1:62901200-62904400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:62901200-62904400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:62901200-62904800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:62901400-62903600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:62901400-62903600	Active TSS	Liver	Liver
41	chr1:62901400-62903600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:62901400-62903800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:62901400-62903800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:62901400-62903800	Active TSS	Colon Smooth Muscle	Colon
45	chr1:62901400-62904000	Active TSS	Aorta	Aorta
46	chr1:62901400-62904000	Active TSS	Fetal Heart	heart
47	chr1:62901400-62904000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:62901400-62904200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:62901400-62904200	Active TSS	Placenta	Placenta
50	chr1:62901400-62904200	Active TSS	Gastric	stomach

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