Variant report

Variant	rs564726625
Chromosome Location	chr1:62902330-62902331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62901235..62902370-chr5:108063481..108064306,3	Hela-S3	cervix:
2	chr1:62901760..62902424-chr11:113746254..113746906,2	Hela-S3	cervix:
3	chr1:62901903..62904232-chr1:63787330..63789698,2	K562	blood:
4	chr1:62901585..62903674-chr1:62993916..62996899,2	MCF-7	breast:
5	chr1:53793068..53794573-chr1:62900533..62902613,2	MCF-7	breast:
6	chr1:62901740..62902708-chr11:108337889..108338532,2	Hela-S3	cervix:
7	chr1:62901788..62902842-chr1:167905408..167906072,3	Hela-S3	cervix:
8	chr1:62902231..62902795-chr11:63952962..63953614,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction
ENSG00000225675	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000270549	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000230798	Chromatin interaction
ENSG00000157193	Chromatin interaction
ENSG00000048028	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000187140	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	chr1:62901000-62902400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:62901000-62902600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:62901000-62903000	Active TSS	Brain Germinal Matrix	brain
5	chr1:62901000-62903400	Active TSS	HSMMtube	muscle
6	chr1:62901000-62903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:62901000-62903600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:62901000-62903800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:62901000-62903800	Active TSS	Fetal Lung	lung
10	chr1:62901000-62904000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:62901000-62904000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:62901000-62904200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:62901000-62904200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:62901000-62904400	Active TSS	Psoas Muscle	Psoas
15	chr1:62901000-62904600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:62901000-62904600	Active TSS	Fetal Kidney	kidney
17	chr1:62901000-62904600	Active TSS	Right Ventricle	heart
18	chr1:62901000-62904800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:62901000-62904800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:62901000-62904800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:62901000-62905000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:62901000-62905000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:62901000-62905000	Active TSS	HSMM	muscle
24	chr1:62901000-62905200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:62901000-62905200	Active TSS	A549	lung
26	chr1:62901000-62905600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:62901000-62905800	Active TSS	NHLF	lung
28	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
29	chr1:62901200-62903600	Active TSS	Brain Substantia Nigra	brain
30	chr1:62901200-62903600	Active TSS	Spleen	Spleen
31	chr1:62901200-62903800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr1:62901200-62904000	Active TSS	Colonic Mucosa	Colon
33	chr1:62901200-62904000	Active TSS	Lung	lung
34	chr1:62901200-62904000	Active TSS	Small Intestine	intestine
35	chr1:62901200-62904200	Active TSS	Fetal Muscle Trunk	muscle
36	chr1:62901200-62904200	Active TSS	Left Ventricle	heart
37	chr1:62901200-62904200	Active TSS	Ovary	ovary
38	chr1:62901200-62904400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:62901200-62904400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:62901200-62904800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:62901400-62902400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:62901400-62903600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:62901400-62903600	Active TSS	Liver	Liver
44	chr1:62901400-62903600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:62901400-62903800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:62901400-62903800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:62901400-62903800	Active TSS	Colon Smooth Muscle	Colon
48	chr1:62901400-62904000	Active TSS	Aorta	Aorta
49	chr1:62901400-62904000	Active TSS	Fetal Heart	heart
50	chr1:62901400-62904000	Active TSS	Sigmoid Colon	Sigmoid Colon

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