Variant report

Variant	rs532073457
Chromosome Location	chr1:155196002-155196003
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155195992-155196005	K562	blood:	n/a	n/a
2	POLR2A	chr1:155195693-155198131	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:155195227-155196124	HepG2	liver:	n/a	n/a
4	MTA3	chr1:155195980-155198172	GM12878	blood:	n/a	n/a
5	TCF7L2	chr1:155195423-155196070	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr1:155195983-155198049	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:155195461-155198240	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:155195866-155196019	MCF-7	breast:	n/a	n/a
9	GTF3C2	chr1:155195691-155198115	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:155195881-155197992	PFSK-1	brain:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
2	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:
3	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
4	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
5	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:
6	chr1:155195759..155198427-chr1:155276824..155279493,2	K562	blood:
7	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
8	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
9	chr1:155194687..155197665-chr1:155223228..155225374,3	MCF-7	breast:
10	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
11	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
12	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
13	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
14	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
15	chr1:155160177..155166575-chr1:155191666..155199927,14	MCF-7	breast:
16	chr1:155194186..155196114-chr1:155247004..155249508,2	MCF-7	breast:
17	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:
18	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
19	chr1:155194530..155197215-chr1:155242223..155244850,3	K562	blood:
20	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
21	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
22	chr1:155143241..155145865-chr1:155194153..155197077,2	MCF-7	breast:
23	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
24	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:
25	chr1:155195750..155198407-chr1:155276763..155279696,2	K562	blood:
26	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
27	chr1:155160390..155165295-chr1:155194589..155199400,14	K562	blood:
28	chr1:155192189..155193749-chr1:155195303..155196996,2	MCF-7	breast:
29	chr1:155188805..155190957-chr1:155195706..155197646,3	K562	blood:
30	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:

No data

Variant related genes	Relation type
MTX1P1	TF binding region
ENSG00000169231	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3373583	chr1:155183155-155203622	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	esv3409536	chr1:155183691-155204364	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
18	nsv8469	chr1:155183945-155204572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
19	esv3394856	chr1:155184707-155205412	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
20	esv3435735	chr1:155184757-155203179	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
21	esv3692913	chr1:155185951-155204010	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
22	nsv547964	chr1:155185951-155204010	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
23	esv2421617	chr1:155185951-155206167	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
24	nsv870387	chr1:155187481-155205523	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
25	nsv514011	chr1:155189136-155197120	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	68 gene(s)	inside rSNPs	diseases
26	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
27	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
28	nsv441717	chr1:155189160-155201060	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
29	esv1803666	chr1:155189160-155201064	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
30	esv1814530	chr1:155189160-155201064	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
31	esv2763713	chr1:155189160-155201064	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
32	esv3453089	chr1:155193228-155199226	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
33	esv3453090	chr1:155193228-155199226	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
34	esv1793876	chr1:155194112-155212255	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
35	nsv516159	chr1:155194980-155197462	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	71 gene(s)	inside rSNPs	diseases
36	esv3397308	chr1:155195828-155200126	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
2	chr1:155179600-155196600	Weak transcription	Gastric	stomach
3	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
4	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
5	chr1:155182200-155196600	Weak transcription	Lung	lung
6	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:155182800-155196400	Weak transcription	Left Ventricle	heart
8	chr1:155188600-155196600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:155189200-155196200	Enhancers	Primary B cells from cord blood	blood
10	chr1:155189400-155196200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:155189600-155196200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:155189600-155196200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:155189800-155196200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:155189800-155196200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:155190600-155196400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:155192000-155196600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:155192800-155196200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:155193000-155196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:155193600-155196600	Enhancers	Placenta	Placenta
20	chr1:155193800-155196200	Enhancers	Fetal Intestine Large	intestine
21	chr1:155193800-155196200	Enhancers	HSMMtube	muscle
22	chr1:155193800-155198200	Enhancers	Spleen	Spleen
23	chr1:155194000-155196200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:155194000-155196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:155194400-155196200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:155194600-155196200	Enhancers	Fetal Intestine Small	intestine
27	chr1:155194600-155196200	Enhancers	Fetal Kidney	kidney
28	chr1:155194600-155196600	Enhancers	Stomach Mucosa	stomach
29	chr1:155194800-155196200	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:155194800-155196200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:155194800-155196200	Enhancers	Fetal Thymus	thymus
32	chr1:155194800-155196200	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:155195000-155196200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:155195000-155196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:155195000-155196200	Enhancers	A549	lung
36	chr1:155195200-155196200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:155195200-155196200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:155195400-155196200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:155195400-155196200	Enhancers	Liver	Liver
40	chr1:155195400-155196200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:155195400-155196200	Enhancers	Fetal Brain Male	brain
42	chr1:155195400-155196200	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:155195400-155196200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:155195400-155196400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:155195400-155196400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:155195400-155196600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:155195400-155196600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:155195400-155196600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:155195400-155197000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:155195400-155197000	Flanking Active TSS	Hela-S3	cervix

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