Variant report

Variant	rs575841640
Chromosome Location	chr1:155180544-155180545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155180530-155180733	K562	blood:	n/a	n/a
2	SPI1	chr1:155180532-155180856	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:155179789-155181031	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:155180024-155185529	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:155180465-155180779	K562	blood:	n/a	n/a
6	ELF1	chr1:155180478-155180831	K562	blood:	n/a	n/a
7	SPI1	chr1:155180458-155180871	GM12891	blood:	n/a	n/a
8	HEY1	chr1:155180404-155180763	K562	blood:	n/a	n/a
9	POLR2A	chr1:155180506-155180921	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:155180424-155180903	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:155180424-155180720	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:155180419-155180797	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr1:155180521-155180856	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:155179942-155180780	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:155180006..155181850-chr1:155210122..155211895,2	K562	blood:
2	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
3	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
4	chr1:155176742..155181811-chr1:155241351..155243659,5	K562	blood:
5	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
6	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:
7	chr1:155179163..155181119-chr1:155277191..155279761,2	K562	blood:
8	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
9	chr1:155175518..155178387-chr1:155179138..155182691,3	MCF-7	breast:
10	chr1:155178436..155180973-chr1:155219281..155221759,2	K562	blood:
11	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
12	chr1:155056523..155059485-chr1:155177407..155180672,3	K562	blood:
13	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
13	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
14	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
15	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
16	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
17	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
18	nsv870053	chr1:155180349-155212316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
19	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179000-155181800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:155179200-155181600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:155179400-155180600	Flanking Active TSS	Dnd41	blood
4	chr1:155179600-155180600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:155179600-155180600	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:155179600-155180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:155179600-155181200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155179600-155181400	Weak transcription	Right Ventricle	heart
9	chr1:155179600-155181400	Weak transcription	Thymus	Thymus
10	chr1:155179600-155181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:155179600-155181600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:155179600-155181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:155179600-155181800	Weak transcription	Placenta	Placenta
14	chr1:155179600-155181800	Weak transcription	Lung	lung
15	chr1:155179600-155181800	Weak transcription	Ovary	ovary
16	chr1:155179600-155182000	Weak transcription	Esophagus	oesophagus
17	chr1:155179600-155182000	Weak transcription	Left Ventricle	heart
18	chr1:155179600-155184400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:155179600-155184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:155179600-155184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:155179600-155184600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:155179600-155184600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:155179600-155184600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
26	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
28	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
29	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
30	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
32	chr1:155179600-155196600	Weak transcription	Gastric	stomach
33	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
34	chr1:155179800-155180600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:155179800-155181800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:155179800-155184200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:155179800-155184800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:155179800-155185400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
41	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
46	chr1:155180000-155180600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:155180000-155180600	Enhancers	HMEC	breast
48	chr1:155180000-155180600	Weak transcription	Osteobl	bone
49	chr1:155180000-155180800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:155180000-155180800	Genic enhancers	Rectal Mucosa Donor 29	rectum

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