Variant report

Variant	rs150628483
Chromosome Location	chr1:154529863-154529864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 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	chr1:154529860-154529944	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:154529696-154530190	HepG2	liver:	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	chr1:154529849-154529867	K562	blood:	n/a	n/a
8	WRNIP1	chr1:154529734-154530676	GM12878	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154528419..154530769-chr1:154535384..154537634,2	MCF-7	breast:
2	chr1:154460459..154462764-chr1:154527677..154529936,2	K562	blood:
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	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
18	chr1:154528624..154530149-chr1:155054658..155056691,2	MCF-7	breast:
19	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2Q1	TF binding region
ENSG00000143612	Chromatin interaction
ENSG00000233875	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000270361	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000163346	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000273110	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	chr1:154528600-154530000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:154528600-154530000	Flanking Active TSS	HSMMtube	muscle
4	chr1:154528600-154530200	Flanking Active TSS	HMEC	breast
5	chr1:154528600-154530400	Flanking Active TSS	Hela-S3	cervix
6	chr1:154528600-154530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:154528600-154530600	Flanking Active TSS	HUVEC	blood vessel
8	chr1:154528800-154530000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:154528800-154530000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:154528800-154530000	Flanking Active TSS	NH-A	brain
11	chr1:154528800-154530200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:154528800-154530200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:154528800-154530200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:154528800-154530200	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr1:154528800-154530200	Flanking Active TSS	Fetal Heart	heart
16	chr1:154528800-154530400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:154528800-154530400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154528800-154530400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:154528800-154530600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:154528800-154530600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr1:154528800-154530600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:154528800-154530600	Flanking Active TSS	NHEK	skin
23	chr1:154528800-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154528800-154531600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:154529000-154530000	Flanking Active TSS	Right Atrium	heart
27	chr1:154529000-154530200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:154529000-154530200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:154529000-154530200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:154529000-154530400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:154529000-154530400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:154529000-154530400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr1:154529000-154530400	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr1:154529000-154530400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:154529000-154530400	Flanking Active TSS	Osteobl	bone
36	chr1:154529000-154530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154529000-154530600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:154529000-154530600	Flanking Active TSS	Liver	Liver
39	chr1:154529000-154530600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:154529000-154530600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:154529000-154530800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:154529000-154530800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:154529000-154530800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154529200-154530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:154529200-154530200	Enhancers	Spleen	Spleen
49	chr1:154529200-154530400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr1:154529200-154530400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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