Variant report

Variant	esv3335041
Chromosome Location	chr4:49092195-49206893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6325)
CpG islands
(count:428)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6325 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:49099072-49099244	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:49154831-49157744	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:49149318-49150059	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:49107140-49107875	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:49112366-49112562	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:49111528-49111563	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:49109281-49110893	HepG2	liver:	n/a	n/a
8	ATF1	chr4:49114188-49114560	K562	blood:	n/a	n/a
9	ATF1	chr4:49109270-49109652	K562	blood:	n/a	n/a
10	ATF1	chr4:49120008-49120552	K562	blood:	n/a	n/a
11	ATF1	chr4:49150936-49153536	K562	blood:	n/a	n/a
12	ATF1	chr4:49093328-49093478	K562	blood:	n/a	n/a
13	ATF1	chr4:49154859-49157591	K562	blood:	n/a	n/a
14	ATF1	chr4:49101009-49102452	K562	blood:	n/a	n/a
15	ATF1	chr4:49120865-49121692	K562	blood:	n/a	n/a
16	ATF1	chr4:49158063-49158263	K562	blood:	n/a	n/a
17	ATF1	chr4:49111368-49111728	K562	blood:	n/a	n/a
18	ATF1	chr4:49093788-49094700	K562	blood:	n/a	n/a
19	ATF1	chr4:49142534-49142590	K562	blood:	n/a	n/a
20	ATF1	chr4:49110185-49110828	K562	blood:	n/a	n/a
21	ATF1	chr4:49163055-49163411	K562	blood:	n/a	n/a
22	ATF1	chr4:49118726-49119093	K562	blood:	n/a	n/a
23	ATF1	chr4:49168855-49169084	K562	blood:	n/a	n/a
24	ATF1	chr4:49099067-49099261	K562	blood:	n/a	n/a
25	ATF1	chr4:49148799-49149989	K562	blood:	n/a	n/a
26	ATF1	chr4:49104617-49104920	K562	blood:	n/a	n/a
27	ATF1	chr4:49112358-49112551	K562	blood:	n/a	n/a
28	ATF1	chr4:49117835-49117841	K562	blood:	n/a	n/a
29	ATF1	chr4:49126584-49126957	K562	blood:	n/a	n/a
30	ATF1	chr4:49140067-49140092	K562	blood:	n/a	n/a
31	ATF1	chr4:49106177-49107831	K562	blood:	n/a	n/a
32	ATF1	chr4:49147847-49148046	K562	blood:	n/a	n/a
33	ATF1	chr4:49105237-49105606	K562	blood:	n/a	n/a
34	ATF1	chr4:49121975-49123219	K562	blood:	n/a	n/a
35	ATF3	chr4:49151701-49151864	GM12878	blood:	n/a	n/a
36	ATF3	chr4:49151473-49151931	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF3	chr4:49156156-49156703	HCT-116	colon:	n/a	n/a
38	ATF3	chr4:49163110-49163368	K562	blood:	n/a	chr4:49163223-49163236
39	ATF3	chr4:49120637-49121281	HCT-116	colon:	n/a	n/a
40	ATF3	chr4:49142496-49142609	K562	blood:	n/a	n/a
41	ATF3	chr4:49107079-49107836	H1-hESC	embryonic stem cell:	n/a	n/a
42	BATF	chr4:49200625-49200836	GM12878	blood:	n/a	n/a
43	BATF	chr4:49125797-49127814	GM12878	blood:	n/a	n/a
44	BATF	chr4:49196142-49196389	GM12878	blood:	n/a	n/a
45	BATF	chr4:49181450-49181651	GM12878	blood:	n/a	n/a
46	BATF	chr4:49193971-49194254	GM12878	blood:	n/a	n/a
47	BATF	chr4:49124090-49125320	GM12878	blood:	n/a	n/a
48	BATF	chr4:49093182-49116887	GM12878	blood:	n/a	n/a
49	BATF	chr4:49148531-49153646	GM12878	blood:	n/a	n/a
50	BATF	chr4:49130338-49130944	GM12878	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:49166489-49166539	MCF-7	breast:	n/a
2	chr4:49166489-49166539	MCF-7	breast:	n/a
3	chr4:49166489-49166539	NHDF-neo	bronchial:	n/a
4	chr4:49159508-49159558	AoSMC	blood vessel:	n/a
5	chr4:49164979-49165029	Hepatocyte	liver:	n/a
6	chr4:49164979-49165029	AG09309	skin:	n/a
7	chr4:49159508-49159558	SK-N-MC	brain:	n/a
8	chr4:49163276-49163326	HRCEpiC	kidney:	n/a
9	chr4:49164979-49165029	IMR90	lung:	fetal
10	chr4:49166489-49166539	MCF10A-Er-Src	breast:	n/a
11	chr4:49204696-49204746	NHDF-neo	bronchial:	n/a
12	chr4:49163558-49163608	HCM	heart:	n/a
13	chr4:49163755-49163805	MCF10A-Er-Src	breast:	n/a
14	chr4:49163755-49163805	HCT-116	colon:	n/a
15	chr4:49163755-49163805	ProgFib	skin:	n/a
16	chr4:49163558-49163608	SKMC	muscle:	n/a
17	chr4:49163276-49163326	Hepatocyte	liver:	n/a
18	chr4:49163558-49163608	AG10803	skin:	n/a
19	chr4:49166489-49166539	HRE	kidney:	n/a
20	chr4:49204696-49204746	HCT-116	colon:	n/a
21	chr4:49164979-49165029	HEK293	kidney:	embryo
22	chr4:49159508-49159558	A549	lung:	n/a
23	chr4:49163755-49163805	PrEC	prostate:	n/a
24	chr4:49163558-49163608	GM12891	blood:	n/a
25	chr4:49163276-49163326	NHBE	bronchial:	n/a
26	chr4:49163755-49163805	AG09309	skin:	n/a
27	chr4:49159508-49159558	IMR90	lung:	fetal
28	chr4:49163755-49163805	PFSK-1	brain:	n/a
29	chr4:49204696-49204746	SAEC	small airway:	n/a
30	chr4:49163558-49163608	NH-A	brain:	n/a
31	chr4:49204696-49204746	H1-hESC	embryonic stem cell:	embryo
32	chr4:49204696-49204746	HEK293	kidney:	embryo
33	chr4:49163276-49163326	HNPCEpiC	eye:	n/a
34	chr4:49164979-49165029	AG09319	gingival:	n/a
35	chr4:49204696-49204746	NB4	blood:	n/a
36	chr4:49166489-49166539	NHBE	bronchial:	n/a
37	chr4:49166489-49166539	Caco-2	colon:	n/a
38	chr4:49166489-49166539	HNPCEpiC	eye:	n/a
39	chr4:49163276-49163326	ECC-1	luminal epithelium:	n/a
40	chr4:49163276-49163326	K562	blood:	n/a
41	chr4:49163276-49163326	HL-60	blood:	n/a
42	chr4:49159508-49159558	K562	blood:	n/a
43	chr4:49166489-49166539	HMEC	breast:	n/a
44	chr4:49204696-49204746	NT2-D1	testis:	n/a
45	chr4:49164979-49165029	AG04449	skin:	fetal
46	chr4:49163558-49163608	GM12878	blood:	n/a
47	chr4:49204696-49204746	HAEpiC	amniotic membrane:	n/a
48	chr4:49163276-49163326	GM12891	blood:	n/a
49	chr4:49163558-49163608	ECC-1	luminal epithelium:	n/a
50	chr4:49166489-49166539	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:89879085..89879687-chr4:49152239..49152833,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CWH43-2	chr4:49175125-49175286	NONHSAT096308
2	lnc-CWH43-2	chr4:49171338-49171778	NONHSAT096308

No data

Variant related genes	Relation type
ENSG00000249828	TF binding region
ENSG00000222437	TF binding region
ENSG00000221415	TF binding region
ENSG00000221747	TF binding region
ENSG00000266337	TF binding region
ENSG00000249828	CpG island
ENSG00000222437	CpG island
ENSG00000221415	CpG island
ENSG00000221747	CpG island
ENSG00000266337	CpG island

Extended variants
information (count: 14354 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:14354 , 50 per page) page: 1 2 3 4 5 6 7 ... 288

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563928004	chr4:49092211-49092212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566209628	chr4:49092226-49092227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539552364	chr4:49092230-49092231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146857166	chr4:49092240-49092241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6818769	chr4:49092255-49092256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563416994	chr4:49092269-49092270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555730262	chr4:49092285-49092286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140657141	chr4:49092306-49092307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368327015	chr4:49092334-49092335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541270029	chr4:49092336-49092337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143520331	chr4:49092374-49092375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185250407	chr4:49092382-49092383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544788079	chr4:49092397-49092398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563261296	chr4:49092418-49092419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530450821	chr4:49092432-49092433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532073460	chr4:49092440-49092441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6814071	chr4:49092454-49092455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562084013	chr4:49092455-49092456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529442293	chr4:49092456-49092457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547537289	chr4:49092461-49092462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190490746	chr4:49092472-49092473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140712321	chr4:49092478-49092479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193105051	chr4:49092481-49092482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150077373	chr4:49092493-49092494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568799329	chr4:49092499-49092500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537478666	chr4:49092537-49092538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549291346	chr4:49092552-49092553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183455811	chr4:49092611-49092612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571845200	chr4:49092624-49092625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550765764	chr4:49092652-49092653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534921217	chr4:49092669-49092670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372199897	chr4:49092673-49092674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9992335	chr4:49092676-49092677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577778739	chr4:49092688-49092689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538700025	chr4:49092713-49092714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556814434	chr4:49092730-49092731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574884483	chr4:49092776-49092777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547716602	chr4:49092831-49092832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75852726	chr4:49092845-49092846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142863353	chr4:49092867-49092868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573953178	chr4:49092883-49092884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541339512	chr4:49092905-49092906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566223796	chr4:49092924-49092925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559867310	chr4:49092930-49092931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533386446	chr4:49092993-49092994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551840125	chr4:49093010-49093011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539556518	chr4:49093030-49093031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547332637	chr4:49093034-49093035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563673958	chr4:49093051-49093052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs147426959	chr4:49093061-49093062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1841 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49085400-49093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:49087400-49093200	Weak transcription	Left Ventricle	heart
3	chr4:49090000-49093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr4:49093200-49093600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
6	chr4:49093200-49093600	ZNF genes & repeats	Right Atrium	heart
7	chr4:49093200-49093600	ZNF genes & repeats	Osteobl	bone
8	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
9	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
10	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
11	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
12	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
13	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
15	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
29	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr4:49093200-49095000	ZNF genes & repeats	Pancreas	Pancrea
31	chr4:49093200-49095000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr4:49093200-49095000	ZNF genes & repeats	Small Intestine	intestine
33	chr4:49093200-49095000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr4:49093200-49095000	ZNF genes & repeats	Dnd41	blood
35	chr4:49093200-49095000	ZNF genes & repeats	HUVEC	blood vessel
36	chr4:49093200-49095000	ZNF genes & repeats	K562	blood
37	chr4:49093200-49095000	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr4:49093200-49095200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:49093200-49095200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:49093200-49095200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr4:49093200-49095200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr4:49093200-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr4:49093200-49095200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr4:49093200-49095200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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