Variant report

Variant	rs370718586
Chromosome Location	chr1:155698994-155698995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155698946-155699186	LNCaP	prostate:	n/a	n/a
2	CTCF	chr1:155698978-155699124	MCF-7	breast:	n/a	n/a
3	CTCF	chr1:155698852-155699218	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr1:155698941-155699369	K562	blood:	n/a	n/a
5	CTCF	chr1:155698866-155699198	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:155698975-155699123	MCF-7	breast:	n/a	n/a
7	RAD21	chr1:155698903-155699216	A549	lung:	n/a	n/a
8	CTCF	chr1:155698980-155699130	WERI-Rb-1	eye:	n/a	n/a
9	POLR2A	chr1:155698852-155699241	K562	blood:	n/a	n/a
10	RAD21	chr1:155698730-155699320	A549	lung:	n/a	n/a
11	CTCF	chr1:155698836-155699434	HCT-116	colon:	n/a	n/a
12	RAD21	chr1:155698894-155699254	GM12878	blood:	n/a	n/a
13	CTCF	chr1:155698972-155699194	GM10248	blood:	n/a	n/a
14	FOXA1	chr1:155698781-155699153	T-47D	breast:	n/a	n/a
15	CTCF	chr1:155698970-155699151	GM19239	blood:	n/a	n/a
16	CTCF	chr1:155698970-155699229	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr1:155698962-155699168	ProgFib	skin:	n/a	n/a
18	MAFK	chr1:155698936-155699132	HepG2	liver:	n/a	n/a
19	RAD21	chr1:155698856-155699266	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:155698888-155699197	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:155698805-155699232	SK-N-SH	brain:	n/a	n/a
22	MYC	chr1:155698971-155699128	K562	blood:	n/a	n/a
23	MAFK	chr1:155698935-155699139	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:155698605-155699510	A549	lung:	n/a	n/a
25	CTCF	chr1:155698893-155699269	K562	blood:	n/a	n/a
26	CTCF	chr1:155698950-155699173	A549	lung:	n/a	n/a
27	CTCF	chr1:155698960-155699110	GM12864	blood:	n/a	n/a
28	CTCF	chr1:155698980-155699130	HL-60	blood:	n/a	n/a
29	CTCF	chr1:155698823-155699207	T-47D	breast:	n/a	n/a
30	CTCF	chr1:155698940-155699131	A549	lung:	n/a	n/a
31	CTCF	chr1:155698959-155699201	HepG2	liver:	n/a	n/a
32	BACH1	chr1:155698936-155699152	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:155698871-155699243	K562	blood:	n/a	n/a
34	RAD21	chr1:155698955-155699181	K562	blood:	n/a	n/a
35	TEAD4	chr1:155698848-155699177	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:155698724-155699138	K562	blood:	n/a	n/a
37	SMC3	chr1:155698951-155699241	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr1:155698833-155699263	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr1:155698889-155699363	K562	blood:	n/a	n/a
40	CTCF	chr1:155698946-155699219	HUVEC	blood vessel:	n/a	n/a
41	RAD21	chr1:155698859-155699258	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr1:155698940-155699090	HMEC	breast:	n/a	n/a
43	SMC3	chr1:155698896-155699216	GM12878	blood:	n/a	n/a
44	CTCF	chr1:155698973-155699195	GM10266	blood:	n/a	n/a
45	JUND	chr1:155698946-155699140	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr1:155698711-155699344	HCT-116	colon:	n/a	n/a
47	MAFK	chr1:155698962-155699197	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr1:155698834-155699327	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr1:155698944-155699367	HCT-116	colon:	n/a	n/a
50	CTCF	chr1:155698900-155699050	HAc	cerebellar:	n/a	n/a

No data

Variant related genes	Relation type
DAP3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
7	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv3065	chr1:155682768-155727524	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv947547	chr1:155698814-155708436	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
2	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
3	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
6	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
7	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
8	chr1:155669200-155702200	Weak transcription	Gastric	stomach
9	chr1:155673800-155707800	Weak transcription	Aorta	Aorta
10	chr1:155676400-155706200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:155677400-155705200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:155679400-155710400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:155679800-155704200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:155681600-155707800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:155683000-155703200	Weak transcription	Spleen	Spleen
16	chr1:155683200-155715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:155683400-155699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:155683400-155707800	Weak transcription	Fetal Heart	heart
19	chr1:155683800-155709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:155683800-155715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:155684000-155700000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:155684000-155707800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:155685200-155704800	Strong transcription	Fetal Thymus	thymus
24	chr1:155687200-155715000	Weak transcription	Esophagus	oesophagus
25	chr1:155687600-155699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:155688400-155705000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:155688400-155711200	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:155688800-155710800	Strong transcription	Fetal Stomach	stomach
29	chr1:155688800-155711000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:155689200-155706000	Weak transcription	Fetal Brain Male	brain
31	chr1:155689200-155709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:155689800-155701400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:155690200-155706200	Weak transcription	Lung	lung
34	chr1:155690600-155702800	Weak transcription	Fetal Lung	lung
35	chr1:155691000-155709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:155691200-155704600	Strong transcription	Placenta	Placenta
37	chr1:155691200-155705200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:155691800-155706200	Weak transcription	NHDF-Ad	bronchial
39	chr1:155692000-155700200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:155692200-155706200	Weak transcription	Ovary	ovary
41	chr1:155693200-155699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:155693400-155699000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:155693400-155699000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:155693800-155704800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:155694000-155702600	Weak transcription	Thymus	Thymus
46	chr1:155694800-155700400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:155694800-155704400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:155694800-155704600	Strong transcription	Dnd41	blood
49	chr1:155694800-155704600	Strong transcription	Hela-S3	cervix
50	chr1:155694800-155705000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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