Variant report

Variant	esv3336534
Chromosome Location	chr5:68848896-68853194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr5:68853021-68853476	HepG2	liver:	n/a	n/a
2	FOSL2	chr5:68853016-68853504	HepG2	liver:	n/a	n/a
3	FOXA1	chr5:68852945-68853686	HepG2	liver:	n/a	n/a
4	FOXA1	chr5:68852246-68852676	HepG2	liver:	n/a	n/a
5	FOXA2	chr5:68853042-68853441	A549	lung:	n/a	n/a
6	JUND	chr5:68853139-68853405	HepG2	liver:	n/a	n/a
7	JUND	chr5:68853176-68853401	HepG2	liver:	n/a	n/a
8	RXRA	chr5:68853169-68853419	HepG2	liver:	n/a	n/a
9	RXRA	chr5:68852438-68852720	GM12878	blood:	n/a	n/a
10	SP1	chr5:68853153-68853657	HepG2	liver:	n/a	n/a
11	SP1	chr5:68853169-68853515	A549	lung:	n/a	n/a
12	TCF12	chr5:68853175-68853430	HepG2	liver:	n/a	n/a
13	TEAD4	chr5:68853067-68853605	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68852996-68853046	NHBE	bronchial:	n/a
2	chr5:68852996-68853046	LNCaP	prostate:	n/a
3	chr5:68852996-68853046	AG09319	gingival:	n/a
4	chr5:68852996-68853046	HepG2	liver:	n/a
5	chr5:68852996-68853046	HAEpiC	amniotic membrane:	n/a
6	chr5:68852996-68853046	Jurkat	blood:	n/a
7	chr5:68852996-68853046	K562	blood:	n/a
8	chr5:68852996-68853046	HCT-116	colon:	n/a
9	chr5:68852996-68853046	PANC-1	pancreas:	n/a
10	chr5:68852996-68853046	SK-N-SH	brain:	n/a
11	chr5:68852996-68853046	HIPEpiC	eye:	n/a
12	chr5:68852996-68853046	AG04449	skin:	fetal
13	chr5:68852996-68853046	GM06990	blood:	n/a
14	chr5:68852996-68853046	AoSMC	blood vessel:	n/a
15	chr5:68852996-68853046	H1-hESC	embryonic stem cell:	embryo
16	chr5:68852996-68853046	ECC-1	luminal epithelium:	n/a
17	chr5:68852996-68853046	Caco-2	colon:	n/a
18	chr5:68852996-68853046	GM12878	blood:	n/a
19	chr5:68852996-68853046	GM19239	blood:	n/a
20	chr5:68852996-68853046	A549	lung:	n/a
21	chr5:68852996-68853046	Hepatocyte	liver:	n/a
22	chr5:68852996-68853046	BJ	skin:	n/a
23	chr5:68852996-68853046	CMK	blood:	n/a
24	chr5:68852996-68853046	MCF10A-Er-Src	breast:	n/a
25	chr5:68852996-68853046	HMEC	breast:	n/a
26	chr5:68852996-68853046	HNPCEpiC	eye:	n/a
27	chr5:68852996-68853046	HCM	heart:	n/a
28	chr5:68852996-68853046	NT2-D1	testis:	n/a
29	chr5:68852996-68853046	GM12892	blood:	n/a
30	chr5:68852996-68853046	HUVEC	blood vessel:	n/a
31	chr5:68852996-68853046	MCF-7	breast:	n/a
32	chr5:68852996-68853046	GM12891	blood:	n/a
33	chr5:68852996-68853046	HRCEpiC	kidney:	n/a
34	chr5:68852996-68853046	ovcar-3	ovarian:	n/a
35	chr5:68852996-68853046	SAEC	small airway:	n/a
36	chr5:68852996-68853046	SK-N-MC	brain:	n/a
37	chr5:68852996-68853046	PrEC	prostate:	n/a
38	chr5:68852996-68853046	AG10803	skin:	n/a
39	chr5:68852996-68853046	HCF	heart:	n/a
40	chr5:68852996-68853046	NHDF-neo	bronchial:	n/a
41	chr5:68852996-68853046	NB4	blood:	n/a
42	chr5:68852996-68853046	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:68852996-68853046	BE2_C	brain:	n/a
44	chr5:68852996-68853046	ProgFib	skin:	n/a
45	chr5:68852996-68853046	HRPEpiC	eye:	n/a
46	chr5:68852996-68853046	HCPEpiC	choroid plexus:	n/a
47	chr5:68852996-68853046	PFSK-1	brain:	n/a
48	chr5:68852996-68853046	U87	brain:	n/a
49	chr5:68852996-68853046	RPTEC	kidney:	n/a
50	chr5:68852996-68853046	T-47D	breast:	n/a

No data

Variant related genes	Relation type
GTF2H2C	TF binding region
GTF2H2C	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555063332	chr5:68849097-68849098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566990266	chr5:68849170-68849171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534352531	chr5:68849184-68849185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552532146	chr5:68849203-68849204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578028658	chr5:68849235-68849236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545675244	chr5:68849300-68849301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76068963	chr5:68849351-68849352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376400453	chr5:68849370-68849371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370808265	chr5:68849373-68849374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370469574	chr5:68849405-68849406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374897366	chr5:68849502-68849503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557330014	chr5:68849548-68849549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575798550	chr5:68849556-68849557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542826512	chr5:68849562-68849563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561401413	chr5:68849564-68849565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528573674	chr5:68849565-68849566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540677741	chr5:68849574-68849575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565268829	chr5:68849586-68849587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532360226	chr5:68849600-68849601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76080549	chr5:68849631-68849632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551652799	chr5:68849659-68849660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201056955	chr5:68849806-68849807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371132365	chr5:68849929-68849930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548752839	chr5:68850049-68850050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567053400	chr5:68850194-68850195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534412736	chr5:68850195-68850196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187688506	chr5:68850198-68850199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192491213	chr5:68850408-68850409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571231854	chr5:68850459-68850460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535790851	chr5:68850485-68850486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544401846	chr5:68850570-68850571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557658202	chr5:68850572-68850573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575815986	chr5:68850595-68850596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370879112	chr5:68850783-68850784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374446243	chr5:68850784-68850785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185678833	chr5:68850785-68850786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368766545	chr5:68850787-68850788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34202353	chr5:68850788-68850789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371435086	chr5:68850823-68850824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555197700	chr5:68850867-68850868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555987017	chr5:68850870-68850871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76123058	chr5:68850922-68850923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146986409	chr5:68850963-68850964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565328546	chr5:68850966-68850967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577186893	chr5:68850996-68850997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373178468	chr5:68851064-68851065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371306264	chr5:68851086-68851087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374793047	chr5:68851088-68851089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556647974	chr5:68851207-68851208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574822864	chr5:68851208-68851209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:68841000-68855200	Weak transcription	HepG2	liver
4	chr5:68844400-68855400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:68845800-68855600	Weak transcription	H9 Cell Line	embryonic stem cell

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