Variant report

Variant	esv3446954
Chromosome Location	chr4:68653705-68709553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:123)
Chromatin interactive
region (count:8)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:68682356-68682519	K562	blood:	n/a	n/a
2	CEBPB	chr4:68658212-68658407	HepG2	liver:	n/a	chr4:68658271-68658282
3	CEBPB	chr4:68685507-68685646	A549	lung:	n/a	n/a
4	CEBPB	chr4:68658253-68658299	K562	blood:	n/a	chr4:68658271-68658282
5	CEBPB	chr4:68670838-68670881	H1-hESC	embryonic stem cell:	n/a	chr4:68670851-68670862
6	CEBPB	chr4:68670844-68670873	HepG2	liver:	n/a	chr4:68670851-68670862
7	CEBPB	chr4:68658203-68658388	IMR90	lung:	n/a	chr4:68658271-68658282
8	CEBPB	chr4:68685527-68685727	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:68687995-68688195	HepG2	liver:	n/a	chr4:68688067-68688078
10	CTCF	chr4:68685540-68685690	AG10803	skin:	n/a	n/a
11	CTCF	chr4:68691448-68691487	MCF-7	breast:	n/a	n/a
12	CTCF	chr4:68691427-68691525	NHEK	skin:	n/a	n/a
13	CTCF	chr4:68691450-68691466	GM19239	blood:	n/a	n/a
14	FOXA1	chr4:68707831-68708111	HepG2	liver:	n/a	n/a
15	GATA3	chr4:68695665-68695762	SH-SY5Y	brain:	n/a	chr4:68695707-68695716 chr4:68695709-68695719
16	GATA3	chr4:68657318-68657452	SH-SY5Y	brain:	n/a	n/a
17	HNF4A	chr4:68675311-68675677	HepG2	liver:	n/a	chr4:68675567-68675582
18	HNF4G	chr4:68675396-68675638	HepG2	liver:	n/a	n/a
19	JUN	chr4:68661429-68661540	HepG2	liver:	n/a	chr4:68661493-68661506
20	JUN	chr4:68673921-68674005	K562	blood:	n/a	n/a
21	JUND	chr4:68661382-68661564	HepG2	liver:	n/a	n/a
22	KAP1	chr4:68656651-68656863	K562	blood:	n/a	n/a
23	MAFF	chr4:68659217-68659277	K562	blood:	n/a	n/a
24	MAFF	chr4:68659118-68659255	HepG2	liver:	n/a	chr4:68659211-68659229
25	MAFF	chr4:68656517-68656772	K562	blood:	n/a	n/a
26	MAFF	chr4:68656512-68656758	HepG2	liver:	n/a	n/a
27	MAFF	chr4:68672706-68672891	HepG2	liver:	n/a	n/a
28	MAFK	chr4:68672735-68672886	HepG2	liver:	n/a	n/a
29	MAFK	chr4:68656523-68656747	IMR90	lung:	n/a	chr4:68656627-68656647
30	MAFK	chr4:68672778-68672819	IMR90	lung:	n/a	n/a
31	MAFK	chr4:68656475-68656783	HepG2	liver:	n/a	chr4:68656627-68656647
32	MAFK	chr4:68659084-68659383	HepG2	liver:	n/a	chr4:68659331-68659342 chr4:68659332-68659343 chr4:68659213-68659228 chr4:68659332-68659343 chr4:68659331-68659342
33	MAFK	chr4:68659124-68659315	IMR90	lung:	n/a	chr4:68659213-68659228
34	MAFK	chr4:68656477-68656804	HepG2	liver:	n/a	chr4:68656627-68656647
35	MAFK	chr4:68672647-68672929	HepG2	liver:	n/a	n/a
36	MAFK	chr4:68656609-68656737	K562	blood:	n/a	chr4:68656627-68656647
37	MAFK	chr4:68659079-68659420	HepG2	liver:	n/a	chr4:68659331-68659342 chr4:68659332-68659343 chr4:68659213-68659228 chr4:68659332-68659343 chr4:68659331-68659342
38	MAZ	chr4:68675514-68675522	HepG2	liver:	n/a	n/a
39	MYC	chr4:68669936-68669937	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:68704270-68704323	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:68698198-68698225	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:68698979-68699040	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:68699171-68699347	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:68656519-68656606	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:68686722-68686730	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:68693564-68693701	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:68676051-68676066	Hela-S3	cervix:	n/a	n/a
48	STAT3	chr4:68690965-68691081	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr4:68669277-68669408	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr4:68673322-68673522	MCF10A-Er-Src	breast:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:68699819-68699869	U87	brain:	n/a
2	chr4:68699819-68699869	U87	brain:	n/a
3	chr4:68687131-68687181	HEK293	kidney:	embryo
4	chr4:68699819-68699869	HepG2	liver:	n/a
5	chr4:68699819-68699869	MCF10A-Er-Src	breast:	n/a
6	chr4:68699819-68699869	HUVEC	blood vessel:	n/a
7	chr4:68699819-68699869	GM19239	blood:	n/a
8	chr4:68687131-68687181	AoSMC	blood vessel:	n/a
9	chr4:68699819-68699869	ProgFib	skin:	n/a
10	chr4:68699819-68699869	K562	blood:	n/a
11	chr4:68699819-68699869	Jurkat	blood:	n/a
12	chr4:68699819-68699869	Caco-2	colon:	n/a
13	chr4:68699819-68699869	Hepatocyte	liver:	n/a
14	chr4:68687131-68687181	CMK	blood:	n/a
15	chr4:68699819-68699869	ovcar-3	ovarian:	n/a
16	chr4:68687131-68687181	NHDF-neo	bronchial:	n/a
17	chr4:68699819-68699869	NHDF-neo	bronchial:	n/a
18	chr4:68687131-68687181	SKMC	muscle:	n/a
19	chr4:68699819-68699869	HEEpiC	esophagus:	n/a
20	chr4:68687131-68687181	ECC-1	luminal epithelium:	n/a
21	chr4:68699819-68699869	AG04449	skin:	fetal
22	chr4:68687131-68687181	HL-60	blood:	n/a
23	chr4:68687131-68687181	ovcar-3	ovarian:	n/a
24	chr4:68687131-68687181	NHBE	bronchial:	n/a
25	chr4:68699819-68699869	PFSK-1	brain:	n/a
26	chr4:68687131-68687181	HCT-116	colon:	n/a
27	chr4:68699819-68699869	A549	lung:	n/a
28	chr4:68687131-68687181	SAEC	small airway:	n/a
29	chr4:68687131-68687181	SK-N-MC	brain:	n/a
30	chr4:68687131-68687181	HRE	kidney:	n/a
31	chr4:68699819-68699869	NB4	blood:	n/a
32	chr4:68699819-68699869	PrEC	prostate:	n/a
33	chr4:68687131-68687181	NH-A	brain:	n/a
34	chr4:68687131-68687181	T-47D	breast:	n/a
35	chr4:68687131-68687181	Caco-2	colon:	n/a
36	chr4:68687131-68687181	HUVEC	blood vessel:	n/a
37	chr4:68687131-68687181	GM12891	blood:	n/a
38	chr4:68687131-68687181	SK-N-SH_RA	brain:	n/a
39	chr4:68699819-68699869	HAEpiC	amniotic membrane:	n/a
40	chr4:68699819-68699869	HRE	kidney:	n/a
41	chr4:68699819-68699869	AG04450	lung:	fetal
42	chr4:68687131-68687181	HMEC	breast:	n/a
43	chr4:68699819-68699869	MCF-7	breast:	n/a
44	chr4:68699819-68699869	NT2-D1	testis:	n/a
45	chr4:68687131-68687181	LNCaP	prostate:	n/a
46	chr4:68687131-68687181	HCF	heart:	n/a
47	chr4:68699819-68699869	GM12891	blood:	n/a
48	chr4:68687131-68687181	IMR90	lung:	fetal
49	chr4:68699819-68699869	IMR90	lung:	fetal
50	chr4:68699819-68699869	HCT-116	colon:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:68689643..68691154-chr4:68704651..68706725,2	K562	blood:
2	chr4:68703226..68705108-chr4:68706609..68708217,2	K562	blood:
3	chr4:68689643..68691154-chr4:68704651..68706725,2	K562	blood:
4	chr4:68645150..68645855-chr4:68653498..68654116,2	MCF-7	breast:
5	chr4:68698345..68700379-chr4:68701901..68703616,2	K562	blood:
6	chr4:68698521..68700206-chr4:68706739..68709118,2	MCF-7	breast:
7	chr4:68694216..68697743-chr4:68699161..68702893,3	K562	blood:
8	chr4:68637160..68639714-chr4:68656693..68658748,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096713
2	lnc-GNRHR-5	chr4:68704734-68704776	NONHSAT096713
3	lnc-GNRHR-5	chr4:68699020-68699058	NONHSAT096713
4	lnc-GNRHR-5	chr4:68703752-68704047	NONHSAT096714
5	lnc-GNRHR-5	chr4:68703925-68704047	NONHSAT096715
6	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096715
7	lnc-GNRHR-5	chr4:68700801-68700839	NONHSAT096713
8	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096714
9	lnc-GNRHR-5	chr4:68703890-68704047	NONHSAT096713

No data

Variant related genes	Relation type
TMPRSS11D	TF binding region
TMPRSS11D	CpG island
ENSG00000153802	chromatin interactions
ENSG00000232398	chromatin interactions

Extended variants
information (count: 1304 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2582359	chr4:68653714-68653715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540601694	chr4:68653765-68653766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200680950	chr4:68653767-68653768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534179518	chr4:68653862-68653863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201147180	chr4:68653863-68653864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71669180	chr4:68653873-68653874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554583266	chr4:68653976-68653977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574365392	chr4:68654004-68654005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547437970	chr4:68654065-68654066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76839373	chr4:68654115-68654116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563435867	chr4:68654121-68654122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532302730	chr4:68654135-68654136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376395793	chr4:68654228-68654229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34955914	chr4:68654230-68654231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373308575	chr4:68654231-68654232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186548079	chr4:68654232-68654233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569069199	chr4:68654234-68654235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189762080	chr4:68654238-68654239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551286159	chr4:68654243-68654244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571510563	chr4:68654246-68654247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59849392	chr4:68654257-68654258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565377404	chr4:68654355-68654356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575055031	chr4:68654405-68654406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139974639	chr4:68654545-68654546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547461456	chr4:68654559-68654560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567620210	chr4:68654632-68654633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145489765	chr4:68654634-68654635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78262845	chr4:68654643-68654644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74764689	chr4:68654695-68654696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2582358	chr4:68654739-68654740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182796420	chr4:68654753-68654754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2582357	chr4:68654774-68654775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141804975	chr4:68654791-68654792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369220710	chr4:68654795-68654796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534379768	chr4:68654814-68654815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373987728	chr4:68654833-68654834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574325212	chr4:68654930-68654931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147695682	chr4:68654934-68654935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115929953	chr4:68655041-68655042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577259120	chr4:68655070-68655071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546001311	chr4:68655110-68655111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559623654	chr4:68655116-68655117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556482950	chr4:68655181-68655182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114427918	chr4:68655210-68655211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140662816	chr4:68655302-68655303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561228883	chr4:68655390-68655391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144417407	chr4:68655409-68655410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142283279	chr4:68655499-68655500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549948589	chr4:68655529-68655530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80191031	chr4:68655565-68655566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68648600-68654200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:68651400-68668800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:68652200-68654000	Weak transcription	HMEC	breast
4	chr4:68652800-68675000	Weak transcription	Gastric	stomach
5	chr4:68668600-68677200	Weak transcription	Right Ventricle	heart
6	chr4:68668800-68669400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:68669000-68678000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:68669400-68674800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:68673800-68675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:68674000-68676200	Weak transcription	Ovary	ovary
11	chr4:68674600-68675200	Weak transcription	Left Ventricle	heart
12	chr4:68674800-68675000	Enhancers	HepG2	liver
13	chr4:68674800-68675800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr4:68675000-68675400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:68675000-68675600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:68675000-68675600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:68675000-68675600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:68675000-68675600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:68675000-68675600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:68675000-68675600	ZNF genes & repeats	Gastric	stomach
21	chr4:68675000-68675600	ZNF genes & repeats	Lung	lung
22	chr4:68675000-68675600	Flanking Active TSS	HepG2	liver
23	chr4:68675000-68676000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:68675200-68675400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:68675200-68675400	ZNF genes & repeats	Left Ventricle	heart
26	chr4:68675600-68675800	Enhancers	HepG2	liver
27	chr4:68675600-68676800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:68699000-68719000	Weak transcription	Esophagus	oesophagus

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