Variant report

Variant	rs587685054
Chromosome Location	chr1:150948181-150948182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150948053-150948378	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150948110-150948466	K562	blood:	n/a	n/a
3	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a
4	MXI1	chr1:150942976-150948211	SK-N-SH	brain:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
4	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
5	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
6	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
7	chr1:150948040..150949859-chr1:150959159..150961414,2	K562	blood:
8	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
9	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
10	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
11	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
12	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
13	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
14	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
15	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

No data

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:150946000-150948200	Active TSS	HSMM	muscle
6	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
11	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:150946400-150948200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:150946400-150948200	Active TSS	Brain Germinal Matrix	brain
14	chr1:150946400-150948200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:150946400-150948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:150946400-150948200	Active TSS	Brain Substantia Nigra	brain
17	chr1:150946400-150948600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:150946600-150948200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr1:150946600-150948600	Active TSS	Fetal Brain Female	brain
20	chr1:150946800-150948800	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:150947400-150948800	Enhancers	Fetal Brain Male	brain
22	chr1:150947600-150948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:150947600-150948200	Flanking Active TSS	Dnd41	blood
24	chr1:150947600-150949800	Weak transcription	Gastric	stomach
25	chr1:150947800-150948200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:150947800-150948200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150947800-150948200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:150947800-150948200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:150947800-150948200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:150947800-150948200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:150947800-150948200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:150947800-150948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:150947800-150948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:150947800-150948200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr1:150947800-150948200	Enhancers	Fetal Heart	heart
36	chr1:150947800-150948200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr1:150947800-150948200	Flanking Active TSS	GM12878-XiMat	blood
38	chr1:150947800-150949600	Enhancers	HMEC	breast
39	chr1:150947800-150949800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:150947800-150950400	Enhancers	Stomach Mucosa	stomach
41	chr1:150947800-150950400	Flanking Active TSS	K562	blood
42	chr1:150947800-150950400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:150948000-150948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:150948000-150948200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:150948000-150948200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:150948000-150948200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:150948000-150948200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:150948000-150948200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:150948000-150948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:150948000-150948200	Enhancers	Adipose Nuclei	Adipose

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