Variant report

Variant	rs560980532
Chromosome Location	chr1:154530493-154530494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:154530442-154531761	GM12878	blood:	n/a	chr1:154531130-154531143 chr1:154531070-154531082 chr1:154531519-154531531 chr1:154531161-154531170 chr1:154531185-154531197
2	YY1	chr1:154530286-154530734	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:154530322-154532394	HepG2	liver:	n/a	n/a
4	MXI1	chr1:154528662-154532574	SK-N-SH	brain:	n/a	chr1:154531305-154531314
5	UBTF	chr1:154530335-154530872	K562	blood:	n/a	n/a
6	MXI1	chr1:154530462-154532483	IMR90	lung:	n/a	chr1:154531305-154531314
7	RUNX3	chr1:154530220-154530606	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:154530476-154531844	K562	blood:	n/a	n/a
9	MTA3	chr1:154529747-154530922	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:154530304-154532358	HL-60	blood:	n/a	n/a
11	POLR2A	chr1:154530378-154531839	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:154529929-154530524	MCF10A-Er-Src	breast:	n/a	n/a
13	SIN3A	chr1:154530194-154530858	H1-hESC	embryonic stem cell:	n/a	n/a
14	WRNIP1	chr1:154529734-154530676	GM12878	blood:	n/a	n/a
15	GTF2F1	chr1:154530423-154530623	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr1:154530417-154530569	Hela-S3	cervix:	n/a	n/a
17	MAX	chr1:154530373-154530703	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:154530388-154530603	GM12878	blood:	n/a	n/a
19	MXI1	chr1:154530292-154530595	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:154530207-154532304	K562	blood:	n/a	n/a
21	CHD1	chr1:154530416-154530828	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154528419..154530769-chr1:154535384..154537634,2	MCF-7	breast:
2	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
3	chr1:154163875..154165876-chr1:154529636..154532185,2	MCF-7	breast:
4	chr1:154505955..154508916-chr1:154529670..154532236,2	K562	blood:
5	chr1:154529667..154532782-chr1:154942768..154945185,3	MCF-7	breast:
6	chr1:154458190..154460389-chr1:154527899..154530840,2	K562	blood:
7	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
8	chr1:154529464..154531504-chr1:155098937..155100767,2	MCF-7	breast:
9	chr1:154530350..154531883-chr1:154574415..154576930,2	MCF-7	breast:
10	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
11	chr1:154300262..154302109-chr1:154529497..154531413,2	MCF-7	breast:
12	chr1:154529851..154531893-chr1:154548972..154552165,3	MCF-7	breast:
13	chr1:154529703..154532693-chr1:155057067..155059987,2	K562	blood:
14	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:
15	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
16	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
17	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
18	chr1:154529336..154531391-chr1:154925736..154927605,2	MCF-7	breast:
19	chr1:154529223..154531101-chr1:154799055..154800739,2	K562	blood:
20	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
21	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
22	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2Q1	TF binding region
ENSG00000273110	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000163346	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000160716	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000233875	Chromatin interaction
ENSG00000270361	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3392983	chr1:154529853-154532901	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	esv3407675	chr1:154530078-154532176	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 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	chr1:154528400-154530600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr1:154528600-154530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:154528600-154530600	Flanking Active TSS	HUVEC	blood vessel
4	chr1:154528800-154530600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:154528800-154530600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr1:154528800-154530600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr1:154528800-154530600	Flanking Active TSS	NHEK	skin
8	chr1:154528800-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:154528800-154531600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:154529000-154530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:154529000-154530600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:154529000-154530600	Flanking Active TSS	Liver	Liver
14	chr1:154529000-154530600	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:154529000-154530800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:154529000-154530800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:154529200-154530600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:154529200-154530600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr1:154529200-154530600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:154529200-154530600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:154529200-154530600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr1:154529200-154530600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr1:154529200-154530600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:154529200-154530600	Flanking Active TSS	Fetal Brain Male	brain
30	chr1:154529200-154530600	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr1:154529200-154530600	Flanking Active TSS	Placenta	Placenta
32	chr1:154529200-154530600	Flanking Active TSS	Fetal Stomach	stomach
33	chr1:154529200-154530800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:154529200-154531800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:154529200-154532000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:154529200-154532200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:154529400-154530600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:154529400-154530600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:154529400-154530600	Flanking Active TSS	Fetal Brain Female	brain
40	chr1:154529400-154530600	Flanking Active TSS	Fetal Lung	lung
41	chr1:154529400-154530800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:154529400-154530800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:154529400-154530800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr1:154529400-154531400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:154529400-154531600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:154529400-154531600	Active TSS	Fetal Muscle Trunk	muscle
47	chr1:154529400-154531600	Active TSS	GM12878-XiMat	blood
48	chr1:154529400-154531800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:154529400-154532200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:154529600-154530600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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