Variant report

Variant	rs539224642
Chromosome Location	chr1:155532689-155532690
allele	-/C
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	RUNX3	chr1:155531891-155533267	GM12878	blood:	n/a	n/a
2	MYC	chr1:155532278-155534000	K562	blood:	n/a	n/a
3	CHD2	chr1:155532413-155533215	K562	blood:	n/a	n/a
4	ETS1	chr1:155532476-155533290	A549	lung:	n/a	n/a
5	EP300	chr1:155532448-155533228	K562	blood:	n/a	chr1:155532540-155532549 chr1:155532542-155532551 chr1:155532455-155532471
6	POLR2A	chr1:155532358-155533999	MCF10A-Er-Src	breast:	n/a	n/a
7	RELA	chr1:155532455-155533225	GM18951	blood:	n/a	n/a
8	STAT5A	chr1:155532633-155533583	K562	blood:	n/a	n/a
9	CHD2	chr1:155532438-155533220	HepG2	liver:	n/a	n/a
10	RCOR1	chr1:155532514-155533208	K562	blood:	n/a	n/a
11	POLR2A	chr1:155531947-155533399	A549	lung:	n/a	n/a
12	TEAD4	chr1:155532665-155533261	K562	blood:	n/a	n/a
13	SIN3AK20	chr1:155531340-155533480	SK-N-SH	brain:	n/a	n/a
14	RELA	chr1:155532430-155533197	GM19193	blood:	n/a	n/a
15	YY1	chr1:155531736-155533218	HepG2	liver:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
16	POLR2A	chr1:155532099-155533315	A549	lung:	n/a	n/a
17	EP300	chr1:155532434-155533165	HepG2	liver:	n/a	chr1:155532540-155532549 chr1:155532542-155532551 chr1:155532455-155532471
18	USF1	chr1:155532632-155533047	SK-N-SH_RA	brain:	n/a	n/a
19	GABPA	chr1:155532371-155533278	MCF-7	breast:	n/a	chr1:155532714-155532725 chr1:155532458-155532467 chr1:155532711-155532725 chr1:155532543-155532557
20	MAX	chr1:155532388-155533260	SK-N-SH	brain:	n/a	n/a
21	FOXA1	chr1:155532687-155533151	T-47D	breast:	n/a	n/a
22	EP300	chr1:155532275-155533316	A549	lung:	n/a	chr1:155532540-155532549 chr1:155532542-155532551 chr1:155532455-155532471
23	POLR2A	chr1:155531957-155533424	U87	brain:	n/a	n/a
24	POLR2A	chr1:155532674-155533749	GM12892	blood:	n/a	n/a
25	TCF12	chr1:155532078-155533250	A549	lung:	n/a	n/a
26	MYC	chr1:155532384-155533521	HUVEC	blood vessel:	n/a	n/a
27	USF1	chr1:155532607-155533217	A549	lung:	n/a	n/a
28	FOXA1	chr1:155532579-155533026	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:155532659-155534117	GM12878	blood:	n/a	n/a
30	HDAC2	chr1:155532444-155532865	K562	blood:	n/a	chr1:155532714-155532723
31	MXI1	chr1:155531719-155534158	SK-N-SH	brain:	n/a	n/a
32	CHD1	chr1:155531752-155534107	IMR90	lung:	n/a	n/a
33	POLR2A	chr1:155532257-155533308	HCT-116	colon:	n/a	n/a
34	RELA	chr1:155532290-155533272	GM15510	blood:	n/a	n/a
35	TAF7	chr1:155532645-155533333	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:155532026-155533303	Raji	blood:	n/a	n/a
37	ELF1	chr1:155531707-155533321	GM12878	blood:	n/a	chr1:155531774-155531785
38	TAF1	chr1:155532657-155533376	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr1:155531709-155533515	A549	lung:	n/a	n/a
40	YY1	chr1:155531734-155533380	GM12878	blood:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
41	YY1	chr1:155531741-155533193	SK-N-SH_RA	brain:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
42	POLR2A	chr1:155532321-155534034	MCF10A-Er-Src	breast:	n/a	n/a
43	REST	chr1:155532655-155533231	K562	blood:	n/a	n/a
44	POLR2A	chr1:155531615-155533398	A549	lung:	n/a	n/a
45	PAX5	chr1:155532111-155533100	GM12892	blood:	n/a	chr1:155532715-155532724 chr1:155532544-155532553
46	POLR2A	chr1:155532243-155533390	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr1:155532000-155533291	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:155531976-155533577	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr1:155532228-155533391	HUVEC	blood vessel:	n/a	n/a
50	MYC	chr1:155532334-155533820	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
2	chr1:155532088..155532960-chr1:155658209..155658720,2	MCF-7	breast:
3	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
4	chr1:155532081..155532969-chr1:155658202..155658825,5	HCT-116	colon:
5	chr1:155532088..155534231-chr8:145750623..145753092,2	MCF-7	breast:
6	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
7	chr1:154934930..154937896-chr1:155531349..155532999,2	K562	blood:
8	chr1:155256697..155258706-chr1:155531523..155534465,2	MCF-7	breast:
9	chr1:155532102..155532798-chr1:155657720..155658726,4	NB4	blood:
10	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
11	chr1:155532125..155532716-chr4:10117868..10118382,2	HCT-116	colon:
12	chr1:155241815..155243331-chr1:155532425..155534000,2	K562	blood:
13	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
14	chr1:155532582..155533539-chr9:91926072..91926647,3	Hela-S3	cervix:
15	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
16	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:
17	chr1:155532611..155533379-chr11:17229191..17230143,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSTO1-1	chr1:155531772-155533735	NONHSAT006742
2	lnc-MSTO1-1	chr1:155531821-155533775	ENSG00000235919.3

Variant related genes	Relation type
ASH1L	TF binding region
ENSG00000143630	Chromatin interaction
ENSG00000071127	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv946417	chr1:155529941-155533143	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
8	esv3360327	chr1:155531253-155533876	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
2	chr1:155530200-155534800	Active TSS	HSMMtube	muscle
3	chr1:155530400-155534400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:155530400-155534800	Active TSS	NHLF	lung
5	chr1:155530600-155532800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:155530600-155533400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:155530600-155533400	Active TSS	Adipose Nuclei	Adipose
8	chr1:155530600-155533600	Active TSS	Primary hematopoietic stem cells	blood
9	chr1:155530600-155533600	Active TSS	Brain Anterior Caudate	brain
10	chr1:155530600-155533600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:155530600-155533600	Active TSS	Fetal Brain Female	brain
12	chr1:155530600-155533600	Active TSS	Osteobl	bone
13	chr1:155530600-155533800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:155530600-155533800	Active TSS	Brain Angular Gyrus	brain
15	chr1:155530600-155533800	Active TSS	Brain Cingulate Gyrus	brain
16	chr1:155530600-155533800	Active TSS	Colon Smooth Muscle	Colon
17	chr1:155530600-155533800	Active TSS	Fetal Muscle Leg	muscle
18	chr1:155530600-155533800	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:155530600-155533800	Active TSS	Thymus	Thymus
20	chr1:155530600-155534200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:155530600-155534200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:155530600-155534200	Active TSS	Primary T cells from cord blood	blood
23	chr1:155530600-155534200	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:155530600-155534200	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:155530600-155534200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:155530600-155534200	Active TSS	Hela-S3	cervix
27	chr1:155530600-155534200	Active TSS	NHEK	skin
28	chr1:155530600-155534400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:155530600-155534400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:155530600-155534400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:155530600-155534400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:155530600-155534400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:155530600-155534400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:155530600-155534400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:155530600-155534400	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:155530600-155534400	Active TSS	Fetal Intestine Large	intestine
37	chr1:155530600-155534400	Active TSS	Fetal Kidney	kidney
38	chr1:155530600-155534400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:155530600-155534400	Active TSS	Psoas Muscle	Psoas
40	chr1:155530600-155534400	Active TSS	HMEC	breast
41	chr1:155530600-155534400	Active TSS	NH-A	brain
42	chr1:155530600-155534600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:155530600-155534600	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:155530600-155534600	Active TSS	Right Ventricle	heart
45	chr1:155530600-155534600	Active TSS	K562	blood
46	chr1:155530600-155534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:155530600-155534800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:155530600-155534800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:155530600-155534800	Active TSS	NHDF-Ad	bronchial
50	chr1:155530800-155533400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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