Variant report

Variant	rs543781164
Chromosome Location	chr1:154530033-154530034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:154528662-154532574	SK-N-SH	brain:	n/a	chr1:154531305-154531314
2	MXI1	chr1:154528613-154530379	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:154529696-154530190	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:154530027-154530055	MCF-7	breast:	n/a	n/a
5	MTA3	chr1:154529747-154530922	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:154529640-154530475	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:154529929-154530524	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:154529954-154530066	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:154529942-154530370	GM12878	blood:	n/a	n/a
10	WRNIP1	chr1:154529734-154530676	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:154530031-154530041	K562	blood:	n/a	n/a
12	GTF2F1	chr1:154529929-154530183	Hela-S3	cervix:	n/a	n/a

No data

(count:20 , 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	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
10	chr1:154300262..154302109-chr1:154529497..154531413,2	MCF-7	breast:
11	chr1:154529851..154531893-chr1:154548972..154552165,3	MCF-7	breast:
12	chr1:154529703..154532693-chr1:155057067..155059987,2	K562	blood:
13	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
14	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
15	chr1:154529336..154531391-chr1:154925736..154927605,2	MCF-7	breast:
16	chr1:154529223..154531101-chr1:154799055..154800739,2	K562	blood:
17	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
18	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
19	chr1:154528624..154530149-chr1:155054658..155056691,2	MCF-7	breast:
20	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:

No data

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

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	chr1:154528600-154530200	Flanking Active TSS	HMEC	breast
3	chr1:154528600-154530400	Flanking Active TSS	Hela-S3	cervix
4	chr1:154528600-154530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:154528600-154530600	Flanking Active TSS	HUVEC	blood vessel
6	chr1:154528800-154530200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:154528800-154530200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:154528800-154530200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:154528800-154530200	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr1:154528800-154530200	Flanking Active TSS	Fetal Heart	heart
11	chr1:154528800-154530400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:154528800-154530400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:154528800-154530400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:154528800-154530600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:154528800-154530600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr1:154528800-154530600	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr1:154528800-154530600	Flanking Active TSS	NHEK	skin
18	chr1:154528800-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:154528800-154531600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:154529000-154530200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:154529000-154530200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:154529000-154530200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:154529000-154530400	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr1:154529000-154530400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr1:154529000-154530400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:154529000-154530400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr1:154529000-154530400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:154529000-154530400	Flanking Active TSS	Osteobl	bone
30	chr1:154529000-154530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:154529000-154530600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr1:154529000-154530600	Flanking Active TSS	Liver	Liver
33	chr1:154529000-154530600	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:154529000-154530800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:154529000-154530800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:154529200-154530200	Enhancers	Spleen	Spleen
42	chr1:154529200-154530400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr1:154529200-154530400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:154529200-154530400	Transcr. at gene 5' and 3'	Thymus	Thymus
45	chr1:154529200-154530400	Flanking Active TSS	K562	blood
46	chr1:154529200-154530600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:154529200-154530600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:154529200-154530600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:154529200-154530600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:154529200-154530600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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