Variant report

Variant	rs144334421
Chromosome Location	chr1:155180178-155180179
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155179866-155180341	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:155176544-155180399	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:155179789-155181031	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr1:155180166-155180442	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr1:155180102-155180462	HL-60	blood:	n/a	n/a
6	POLR2A	chr1:155180024-155185529	Hela-S3	cervix:	n/a	n/a
7	FOS	chr1:155180104-155180429	MCF10A-Er-Src	breast:	n/a	n/a
8	HCFC1	chr1:155177784-155180286	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:155180058-155180529	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:155180124-155180418	K562	blood:	n/a	n/a
11	POLR2A	chr1:155180129-155180258	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:155180167-155180370	K562	blood:	n/a	n/a
13	POLR2A	chr1:155179942-155180780	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
2	chr1:155180006..155181850-chr1:155210122..155211895,2	K562	blood:
3	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
4	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
5	chr1:155176742..155181811-chr1:155241351..155243659,5	K562	blood:
6	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
7	chr1:155177501..155180439-chr1:155241902..155244852,3	MCF-7	breast:
8	chr1:155176808..155180528-chr1:155231411..155234045,4	K562	blood:
9	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:
10	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
11	chr1:155179163..155181119-chr1:155277191..155279761,2	K562	blood:
12	chr1:155106358..155107894-chr1:155178514..155180234,2	K562	blood:
13	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
14	chr1:155175518..155178387-chr1:155179138..155182691,3	MCF-7	breast:
15	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
16	chr1:155178436..155180973-chr1:155219281..155221759,2	K562	blood:
17	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
18	chr1:155056523..155059485-chr1:155177407..155180672,3	K562	blood:
19	chr1:155178085..155180527-chr1:155241638..155244454,2	K562	blood:
20	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:

No data

Variant related genes	Relation type
THBS3	TF binding region
MTX1	TF binding region
ENSG00000160767	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
12	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
13	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
14	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
15	esv2764209	chr1:155175657-155201064	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv547963	chr1:155178746-155206167	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
17	nsv8458	chr1:155180131-155184409	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv946411	chr1:155180147-155188968	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr1:155176600-155180200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:155179000-155181800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:155179200-155181600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:155179400-155180200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:155179400-155180200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:155179400-155180200	Enhancers	Spleen	Spleen
7	chr1:155179400-155180600	Flanking Active TSS	Dnd41	blood
8	chr1:155179600-155180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:155179600-155180200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:155179600-155180200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:155179600-155180200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:155179600-155180200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:155179600-155180200	Enhancers	Fetal Heart	heart
14	chr1:155179600-155180200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:155179600-155180200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155179600-155180400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:155179600-155180400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:155179600-155180400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:155179600-155180400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:155179600-155180400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:155179600-155180400	Enhancers	Liver	Liver
22	chr1:155179600-155180600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:155179600-155180600	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:155179600-155180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:155179600-155181200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:155179600-155181400	Weak transcription	Right Ventricle	heart
27	chr1:155179600-155181400	Weak transcription	Thymus	Thymus
28	chr1:155179600-155181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:155179600-155181600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:155179600-155181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:155179600-155181800	Weak transcription	Placenta	Placenta
32	chr1:155179600-155181800	Weak transcription	Lung	lung
33	chr1:155179600-155181800	Weak transcription	Ovary	ovary
34	chr1:155179600-155182000	Weak transcription	Esophagus	oesophagus
35	chr1:155179600-155182000	Weak transcription	Left Ventricle	heart
36	chr1:155179600-155184400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:155179600-155184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:155179600-155184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:155179600-155184600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:155179600-155184600	Weak transcription	Brain Anterior Caudate	brain
41	chr1:155179600-155184600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
44	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
46	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
47	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
48	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
50	chr1:155179600-155196600	Weak transcription	Gastric	stomach

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