Variant report

Variant	esv3373698
Chromosome Location	chr4:15868504-15870802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr4:15870431-15870755	GM12878	blood:	n/a	n/a
2	CTCF	chr4:15869900-15870050	HMF	breast:	n/a	n/a
3	CTCF	chr4:15869780-15869930	HEK293	kidney:	n/a	n/a
4	CTCF	chr4:15869876-15869915	GM19240	blood:	n/a	n/a
5	CTCF	chr4:15869833-15869953	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:15869780-15869930	A549	lung:	n/a	n/a
7	CTCF	chr4:15869760-15869910	HMEC	breast:	n/a	n/a
8	CTCF	chr4:15869759-15870053	K562	blood:	n/a	n/a
9	CTCF	chr4:15869770-15870038	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:15869820-15869970	HMF	breast:	n/a	n/a
11	CTCF	chr4:15870020-15870170	NHEK	skin:	n/a	n/a
12	CTCF	chr4:15869800-15869950	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr4:15869800-15869950	AG09309	skin:	n/a	n/a
14	CTCF	chr4:15869800-15869950	AG09319	gingival:	n/a	n/a
15	CTCF	chr4:15869820-15869970	GM12871	blood:	n/a	n/a
16	CTCF	chr4:15869860-15869910	GM12878	blood:	n/a	n/a
17	CTCF	chr4:15869780-15869930	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr4:15869865-15869952	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:15869920-15870070	HMEC	breast:	n/a	n/a
20	CTCF	chr4:15869800-15869982	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr4:15869874-15869934	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:15869808-15869956	Gliobla	brain:	n/a	n/a
23	CTCF	chr4:15869807-15869962	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:15869780-15869930	NHEK	skin:	n/a	n/a
25	CTCF	chr4:15869757-15869930	A549	lung:	n/a	n/a
26	CTCF	chr4:15869873-15869910	HepG2	liver:	n/a	n/a
27	CTCF	chr4:15869856-15869913	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:15869780-15869930	BE2_C	brain:	n/a	n/a
29	CTCF	chr4:15869780-15869930	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr4:15869797-15869967	K562	blood:	n/a	n/a
31	CTCF	chr4:15869871-15869927	Fibrobl	skin:	n/a	n/a
32	CTCF	chr4:15869820-15869970	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr4:15869790-15869997	NHEK	skin:	n/a	n/a
34	CTCF	chr4:15869826-15869957	A549	lung:	n/a	n/a
35	CTCF	chr4:15869890-15869934	H1-hESC	embryonic stem cell:	n/a	n/a
36	CUX1	chr4:15870470-15871149	GM12878	blood:	n/a	n/a
37	EBF1	chr4:15870410-15870915	GM12878	blood:	n/a	n/a
38	EP300	chr4:15870404-15870884	GM12878	blood:	n/a	chr4:15870875-15870882
39	EP300	chr4:15870410-15870889	GM12878	blood:	n/a	chr4:15870875-15870882
40	EP300	chr4:15869955-15870090	K562	blood:	n/a	n/a
41	GATA1	chr4:15868558-15869167	PBDE	blood:	n/a	chr4:15868704-15868711 chr4:15868705-15868722 chr4:15868704-15868711 chr4:15868704-15868711 chr4:15868700-15868716 chr4:15868703-15868713 chr4:15868702-15868714
42	GATA3	chr4:15870154-15870244	SH-SY5Y	brain:	n/a	n/a
43	JUND	chr4:15869811-15869988	K562	blood:	n/a	n/a
44	JUND	chr4:15869839-15869987	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr4:15870477-15870572	GM12878	blood:	n/a	n/a
46	RAD21	chr4:15869762-15870090	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr4:15869779-15869988	SK-N-SH_RA	brain:	n/a	n/a
48	RAD21	chr4:15869763-15869992	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr4:15869780-15870147	A549	lung:	n/a	n/a
50	RAD21	chr4:15869714-15870119	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15869463..15870168-chr4:15957576..15958464,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251644	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140652503	chr4:15868530-15868531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571146968	chr4:15868536-15868537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539710176	chr4:15868565-15868566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185658436	chr4:15868602-15868603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573129311	chr4:15868639-15868640	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540737231	chr4:15868641-15868642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535648767	chr4:15868652-15868653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2531168	chr4:15868682-15868683	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575207615	chr4:15868724-15868725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs544197337	chr4:15868783-15868784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546771040	chr4:15868800-15868801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573506260	chr4:15868809-15868810	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563895756	chr4:15868810-15868811	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112790092	chr4:15868879-15868880	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562486543	chr4:15868914-15868915	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149296967	chr4:15868915-15868916	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144566350	chr4:15868946-15868947	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373375533	chr4:15869015-15869016	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529144590	chr4:15869016-15869017	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548865799	chr4:15869044-15869045	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562216894	chr4:15869063-15869064	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190425702	chr4:15869073-15869074	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182176505	chr4:15869110-15869111	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs114717971	chr4:15869126-15869127	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs527380738	chr4:15869164-15869165	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541096186	chr4:15869260-15869261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539425997	chr4:15869367-15869368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186211857	chr4:15869404-15869405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55798711	chr4:15869424-15869425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191878923	chr4:15869431-15869432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56054298	chr4:15869467-15869468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13109964	chr4:15869468-15869469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13115535	chr4:15869469-15869470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55997734	chr4:15869481-15869482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56195965	chr4:15869486-15869487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56320524	chr4:15869493-15869494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56212400	chr4:15869499-15869500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55885999	chr4:15869500-15869501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55986910	chr4:15869506-15869507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56229576	chr4:15869511-15869512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377095923	chr4:15869513-15869514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369909446	chr4:15869514-15869515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55708417	chr4:15869519-15869520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28663256	chr4:15869520-15869521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373131116	chr4:15869521-15869522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377540876	chr4:15869522-15869523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184071579	chr4:15869526-15869527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56097830	chr4:15869527-15869528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55730470	chr4:15869532-15869533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56194217	chr4:15869539-15869540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15854000-15868800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:15867200-15868800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:15867200-15870400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:15868800-15869400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:15868800-15870600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:15869400-15869800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:15869800-15870800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:15869800-15871000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:15870200-15870600	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:15870400-15870800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:15870400-15871000	Enhancers	GM12878-XiMat	blood
12	chr4:15870400-15871400	Enhancers	Stomach Smooth Muscle	stomach
13	chr4:15870600-15871000	Enhancers	Duodenum Smooth Muscle	Duodenum

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