Variant report

Variant	nsv598459
Chromosome Location	chr5:68865034-68886203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:68874019-68874078	GM10248	blood:	n/a	n/a
2	CTCF	chr5:68870845-68870938	Medullo	brain:	n/a	n/a
3	CTCF	chr5:68870569-68870638	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr5:68875399-68875502	Medullo	brain:	n/a	n/a
5	CTCF	chr5:68883919-68883967	Medullo	brain:	n/a	n/a
6	EBF1	chr5:68879238-68879448	GM12878	blood:	n/a	n/a
7	EBF1	chr5:68879258-68879506	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:68873415-68873525	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:68871587-68871896	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:68884161-68884488	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:68869719-68869894	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:68879064-68879548	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:68871673-68871835	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:68869642-68870042	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:68870411-68870839	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68868293-68868343	HepG2	liver:	n/a
2	chr5:68868293-68868343	SK-N-SH	brain:	n/a
3	chr5:68868293-68868343	CMK	blood:	n/a
4	chr5:68868293-68868343	HCF	heart:	n/a
5	chr5:68868293-68868343	HEK293	kidney:	embryo
6	chr5:68868293-68868343	HNPCEpiC	eye:	n/a
7	chr5:68868293-68868343	AG09319	gingival:	n/a
8	chr5:68868293-68868343	HRE	kidney:	n/a
9	chr5:68868293-68868343	GM12878	blood:	n/a
10	chr5:68868293-68868343	BJ	skin:	n/a
11	chr5:68868293-68868343	HIPEpiC	eye:	n/a
12	chr5:68868293-68868343	ovcar-3	ovarian:	n/a
13	chr5:68868293-68868343	U87	brain:	n/a
14	chr5:68868293-68868343	GM12892	blood:	n/a
15	chr5:68868293-68868343	HAEpiC	amniotic membrane:	n/a
16	chr5:68868293-68868343	HCM	heart:	n/a
17	chr5:68868293-68868343	BE2_C	brain:	n/a
18	chr5:68868293-68868343	PFSK-1	brain:	n/a
19	chr5:68868293-68868343	HRPEpiC	eye:	n/a
20	chr5:68868293-68868343	SAEC	small airway:	n/a
21	chr5:68868293-68868343	Hela-S3	cervix:	n/a
22	chr5:68868293-68868343	AG10803	skin:	n/a
23	chr5:68868293-68868343	Hepatocyte	liver:	n/a
24	chr5:68868293-68868343	NH-A	brain:	n/a
25	chr5:68868293-68868343	NHDF-neo	bronchial:	n/a
26	chr5:68868293-68868343	ProgFib	skin:	n/a
27	chr5:68868293-68868343	SK-N-SH_RA	brain:	n/a
28	chr5:68868293-68868343	LNCaP	prostate:	n/a
29	chr5:68868293-68868343	H1-hESC	embryonic stem cell:	embryo
30	chr5:68868293-68868343	PANC-1	pancreas:	n/a
31	chr5:68868293-68868343	NHBE	bronchial:	n/a
32	chr5:68868293-68868343	GM19239	blood:	n/a
33	chr5:68868293-68868343	IMR90	lung:	fetal
34	chr5:68868293-68868343	HL-60	blood:	n/a
35	chr5:68868293-68868343	SK-N-MC	brain:	n/a
36	chr5:68868293-68868343	NB4	blood:	n/a
37	chr5:68868293-68868343	GM12891	blood:	n/a
38	chr5:68868293-68868343	Jurkat	blood:	n/a
39	chr5:68868293-68868343	T-47D	breast:	n/a
40	chr5:68868293-68868343	HMEC	breast:	n/a
41	chr5:68868293-68868343	AG04449	skin:	fetal
42	chr5:68868293-68868343	MCF-7	breast:	n/a
43	chr5:68868293-68868343	AG04450	lung:	fetal
44	chr5:68868293-68868343	HUVEC	blood vessel:	n/a
45	chr5:68868293-68868343	K562	blood:	n/a
46	chr5:68868293-68868343	HCPEpiC	choroid plexus:	n/a
47	chr5:68868293-68868343	AG09309	skin:	n/a
48	chr5:68868293-68868343	A549	lung:	n/a
49	chr5:68868293-68868343	SKMC	muscle:	n/a
50	chr5:68868293-68868343	AoSMC	blood vessel:	n/a

No data

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

Extended variants
information (count: 91 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533072744	chr5:68865488-68865489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551592479	chr5:68865505-68865506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563150250	chr5:68866996-68866997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111558613	chr5:68867502-68867503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111821439	chr5:68867836-68867837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530572055	chr5:68868109-68868110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548691808	chr5:68868166-68868167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201020620	chr5:68868255-68868256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566990108	chr5:68868262-68868263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534647742	chr5:68868266-68868267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562754988	chr5:68868319-68868320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200619279	chr5:68868338-68868339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571956376	chr5:68868344-68868345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201442523	chr5:68868345-68868346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557648706	chr5:68868372-68868373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575914071	chr5:68868398-68868399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536806739	chr5:68868433-68868434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555132704	chr5:68868437-68868438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573231677	chr5:68868459-68868460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139634805	chr5:68868714-68868715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531442685	chr5:68868852-68868853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182708393	chr5:68868893-68868894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186855157	chr5:68868960-68868961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192438152	chr5:68868972-68868973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547058560	chr5:68868974-68868975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9763784	chr5:68869011-68869012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2666617	chr5:68869023-68869024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565125075	chr5:68869074-68869075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2561155	chr5:68869209-68869210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377224313	chr5:68869279-68869280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2457872	chr5:68869302-68869303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2576897	chr5:68869426-68869427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2666616	chr5:68869465-68869466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577128352	chr5:68870413-68870414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544976802	chr5:68871343-68871344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563212918	chr5:68871351-68871352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530634306	chr5:68871412-68871413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542399694	chr5:68871836-68871837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560677545	chr5:68871844-68871845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558948482	chr5:68873294-68873295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546616910	chr5:68873706-68873707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571166619	chr5:68873740-68873741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79086191	chr5:68874513-68874514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62374265	chr5:68874943-68874944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371659095	chr5:68875616-68875617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532087382	chr5:68875639-68875640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376202089	chr5:68875651-68875652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551310033	chr5:68875685-68875686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569554753	chr5:68875686-68875687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536862328	chr5:68875690-68875691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68857000-68865600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68857000-68865600	Weak transcription	NHEK	skin
3	chr5:68857000-68865600	Weak transcription	Osteobl	bone
4	chr5:68857000-68865800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:68857000-68865800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:68857000-68865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:68857000-68865800	Weak transcription	Liver	Liver
8	chr5:68857000-68866000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:68857000-68866200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:68857000-68866200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:68857000-68868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:68857000-68869600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:68857000-68869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:68857000-68870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:68857000-68870200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:68857000-68870600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:68857000-68870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:68857000-68878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:68857000-68883400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:68861800-68867800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:68862400-68869200	Weak transcription	Fetal Intestine Large	intestine
22	chr5:68862400-68869600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:68862400-68870400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:68864800-68866400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:68867800-68869200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:68869200-68879000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:68883400-68883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:68883800-68886000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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