Variant report

Variant	rs539072343
Chromosome Location	chr1:155189428-155189429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:155188739-155189534	IMR90	lung:	n/a	chr1:155189137-155189148
2	ZNF143	chr1:155189336-155189841	Hela-S3	cervix:	n/a	n/a
3	YY1	chr1:155189360-155189619	HepG2	liver:	n/a	chr1:155189509-155189531
4	YY1	chr1:155189296-155189720	K562	blood:	n/a	chr1:155189509-155189531
5	SP4	chr1:155189272-155189705	H1-hESC	embryonic stem cell:	n/a	chr1:155189415-155189431
6	USF1	chr1:155189264-155189593	HepG2	liver:	n/a	n/a
7	ELK1	chr1:155188711-155189677	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr1:155188595-155189839	HCT-116	colon:	n/a	chr1:155188848-155188861
9	YY1	chr1:155188533-155189832	SK-N-SH	brain:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
10	HCFC1	chr1:155188647-155189725	K562	blood:	n/a	n/a
11	BHLHE40	chr1:155189313-155189626	K562	blood:	n/a	n/a
12	USF1	chr1:155188576-155189917	HCT-116	colon:	n/a	chr1:155188816-155188837
13	YY1	chr1:155188621-155189925	GM12878	blood:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
14	POLR2A	chr1:155189116-155189794	SK-N-MC	brain:	n/a	n/a
15	YY1	chr1:155188651-155189759	GM12878	blood:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
16	NFE2	chr1:155189357-155189667	GM12878	blood:	n/a	chr1:155189481-155189490
17	USF2	chr1:155188602-155189826	Hela-S3	cervix:	n/a	chr1:155188840-155188851 chr1:155188821-155188832 chr1:155188816-155188837
18	RCOR1	chr1:155189348-155189651	K562	blood:	n/a	n/a
19	YY1	chr1:155188521-155189669	A549	lung:	n/a	chr1:155189509-155189531 chr1:155188531-155188550 chr1:155188870-155188892
20	MXI1	chr1:155188546-155190020	SK-N-SH	brain:	n/a	n/a
21	YY1	chr1:155189388-155189591	K562	blood:	n/a	chr1:155189509-155189531
22	YY1	chr1:155189112-155189850	GM12891	blood:	n/a	chr1:155189509-155189531
23	USF1	chr1:155189325-155189615	GM12878	blood:	n/a	n/a
24	YY1	chr1:155189364-155189645	HCT-116	colon:	n/a	chr1:155189509-155189531
25	USF1	chr1:155189211-155189685	A549	lung:	n/a	n/a
26	YY1	chr1:155188476-155189771	A549	lung:	n/a	chr1:155189509-155189531 chr1:155188531-155188550 chr1:155188870-155188892
27	ATF3	chr1:155189415-155189608	GM12878	blood:	n/a	chr1:155189481-155189490
28	ELF1	chr1:155189375-155189869	K562	blood:	n/a	n/a
29	MAZ	chr1:155189287-155189702	K562	blood:	n/a	chr1:155189481-155189490
30	YY1	chr1:155188573-155189831	SK-N-SH_RA	brain:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
31	YY1	chr1:155188633-155189782	SK-N-SH_RA	brain:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
32	USF1	chr1:155189256-155189740	A549	lung:	n/a	n/a
33	THAP1	chr1:155189091-155189787	K562	blood:	n/a	chr1:155189510-155189534
34	USF1	chr1:155188564-155189800	K562	blood:	n/a	chr1:155188816-155188837
35	SIX5	chr1:155189273-155189637	K562	blood:	n/a	n/a
36	YY1	chr1:155188621-155189852	ECC-1	luminal epithelium:	n/a	chr1:155189509-155189531 chr1:155188870-155188892
37	MAX	chr1:155189369-155189840	NB4	blood:	n/a	chr1:155189481-155189490
38	SIX5	chr1:155189345-155189660	GM12878	blood:	n/a	n/a
39	GTF3C2	chr1:155188832-155189713	Hela-S3	cervix:	n/a	n/a
40	YY1	chr1:155189327-155189785	K562	blood:	n/a	chr1:155189509-155189531
41	SIN3A	chr1:155189343-155189668	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZEB1	chr1:155189310-155189562	GM12878	blood:	n/a	n/a
43	EGR1	chr1:155188662-155189856	HCT-116	colon:	n/a	chr1:155188852-155188861
44	USF1	chr1:155188571-155189828	SK-N-SH	brain:	n/a	chr1:155188816-155188837
45	USF1	chr1:155188637-155189826	ECC-1	luminal epithelium:	n/a	chr1:155188816-155188837
46	USF1	chr1:155189102-155189665	SK-N-SH_RA	brain:	n/a	n/a
47	EGR1	chr1:155189290-155189764	ECC-1	luminal epithelium:	n/a	n/a
48	ELK4	chr1:155188720-155189818	Hela-S3	cervix:	n/a	n/a
49	ATF3	chr1:155189186-155189737	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
50	MAZ	chr1:155189409-155189822	Hela-S3	cervix:	n/a	chr1:155189481-155189490

No.	Distal block	Cell Line	Cell type
1	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
2	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
3	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
4	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
5	chr1:155175944..155179285-chr1:155187472..155192193,6	MCF-7	breast:
6	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
7	chr1:155170199..155172108-chr1:155187853..155191276,3	MCF-7	breast:
8	chr1:155188805..155190957-chr1:155195706..155197646,3	K562	blood:
9	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:

Variant related genes	Relation type
GBAP1	TF binding region
ENSG00000169231	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000173171	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 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	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv3453087	chr1:155186728-155191926	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
27	esv3453088	chr1:155186728-155191926	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
2	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
4	chr1:155179600-155196600	Weak transcription	Gastric	stomach
5	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
6	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
7	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
8	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:155180200-155194000	Weak transcription	HSMM	muscle
10	chr1:155180600-155189600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:155180600-155195600	Weak transcription	HepG2	liver
12	chr1:155182200-155195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
14	chr1:155182200-155196600	Weak transcription	Lung	lung
15	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:155182800-155194800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:155182800-155194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:155182800-155196400	Weak transcription	Left Ventricle	heart
19	chr1:155186000-155195200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:155186600-155193000	Weak transcription	A549	lung
21	chr1:155186800-155193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155186800-155193600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:155186800-155193600	Weak transcription	Thymus	Thymus
24	chr1:155187800-155190800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:155187800-155196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:155188000-155189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:155188000-155193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:155188200-155189600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:155188200-155189800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:155188400-155189600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:155188400-155191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:155188600-155189600	Active TSS	Fetal Kidney	kidney
33	chr1:155188600-155189800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:155188600-155189800	Enhancers	Placenta	Placenta
35	chr1:155188600-155189800	Enhancers	Dnd41	blood
36	chr1:155188600-155196600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:155188800-155189600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:155188800-155189600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:155188800-155189800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:155188800-155189800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:155188800-155189800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:155188800-155189800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:155188800-155189800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:155188800-155189800	ZNF genes & repeats	Right Atrium	heart
45	chr1:155188800-155189800	Enhancers	Spleen	Spleen
46	chr1:155188800-155189800	Flanking Active TSS	Hela-S3	cervix
47	chr1:155188800-155189800	Flanking Active TSS	K562	blood
48	chr1:155188800-155189800	Enhancers	NHEK	skin
49	chr1:155188800-155190000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:155188800-155190600	Enhancers	Duodenum Mucosa	Duodenum

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