Variant report

Variant	nsv968920
Chromosome Location	chr5:68350235-68371417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:68354353-68354655	HCT-116	colon:	n/a	n/a
2	CEBPB	chr5:68350405-68350482	A549	lung:	n/a	n/a
3	CTCF	chr5:68370557-68370792	HepG2	liver:	n/a	chr5:68370693-68370711 chr5:68370696-68370709
4	CTCF	chr5:68356842-68356912	Lung_OC	lung:	n/a	n/a
5	CTCF	chr5:68370620-68370770	K562	blood:	n/a	chr5:68370693-68370711 chr5:68370696-68370709
6	CTCF	chr5:68371280-68371430	K562	blood:	n/a	chr5:68371306-68371319
7	CTCF	chr5:68357187-68357218	GM10248	blood:	n/a	n/a
8	CTCF	chr5:68371380-68371530	HepG2	liver:	n/a	n/a
9	CTCF	chr5:68370700-68370850	HepG2	liver:	n/a	n/a
10	CTCF	chr5:68370642-68370756	HepG2	liver:	n/a	chr5:68370693-68370711 chr5:68370696-68370709
11	FOXA2	chr5:68358121-68358519	A549	lung:	n/a	n/a
12	HMGN3	chr5:68370714-68371071	K562	blood:	n/a	n/a
13	JUN	chr5:68363073-68363271	K562	blood:	n/a	n/a
14	JUND	chr5:68358135-68358313	HepG2	liver:	n/a	n/a
15	NR2F2	chr5:68358063-68358576	K562	blood:	n/a	n/a
16	NR2F2	chr5:68358091-68358458	K562	blood:	n/a	n/a
17	PAX5	chr5:68359298-68359505	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:68370289-68370300	Gliobla	brain:	n/a	n/a
19	POLR2A	chr5:68361549-68361675	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:68360086-68360214	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:68352402-68352520	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:68370359-68370380	Gliobla	brain:	n/a	n/a
23	SETDB1	chr5:68354312-68354574	U2OS	brain:	n/a	n/a
24	SETDB1	chr5:68356896-68357583	U2OS	brain:	n/a	n/a
25	SIN3AK20	chr5:68358158-68358246	HepG2	liver:	n/a	n/a
26	USF1	chr5:68368650-68368808	K562	blood:	n/a	n/a
27	ZBTB7A	chr5:68370644-68370776	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:68342981..68345897-chr5:68356534..68359095,2	K562	blood:
2	chr5:68342410..68343964-chr5:68350073..68352627,2	K562	blood:
3	chr5:68339371..68341733-chr5:68369819..68371503,2	K562	blood:
4	chr5:68369682..68372590-chr5:68373301..68376455,3	K562	blood:
5	chr5:68370456..68371966-chr5:68399176..68400870,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-12	chr5:68364752-68365027	NONHSAT101884
2	lnc-CCDC125-14	chr5:68361371-68361510	ucscGeneNc_uc003jvf_1

No data

Variant related genes	Relation type
SUMO2P4	TF binding region
ENSG00000250237	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558771208	chr5:68359488-68359489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62372624	chr5:68359494-68359495	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537939204	chr5:68359502-68359503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147200985	chr5:68359510-68359511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556336761	chr5:68359513-68359514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566767586	chr5:68359536-68359537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574459766	chr5:68359569-68359570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184204733	chr5:68359570-68359571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140104859	chr5:68359574-68359575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112274795	chr5:68359588-68359589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141889683	chr5:68359595-68359596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572662337	chr5:68359596-68359597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139578427	chr5:68359598-68359599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146433683	chr5:68359605-68359606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546121004	chr5:68359637-68359638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375006057	chr5:68359644-68359645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145337387	chr5:68359647-68359648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148261347	chr5:68359672-68359673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574557165	chr5:68359673-68359674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs36025764	chr5:68359712-68359713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143463577	chr5:68359717-68359718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139817201	chr5:68359723-68359724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142966496	chr5:68359724-68359725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs70989985	chr5:68359735-68359736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201237886	chr5:68359831-68359832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531830535	chr5:68359837-68359838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543499779	chr5:68359842-68359843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562171807	chr5:68359848-68359849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529371439	chr5:68359999-68360000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34201006	chr5:68360029-68360030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79276788	chr5:68360032-68360033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs398039819	chr5:68360049-68360050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547736577	chr5:68360054-68360055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565974866	chr5:68360055-68360056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6450015	chr5:68360100-68360101	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6450016	chr5:68360124-68360125	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570652300	chr5:68360145-68360146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375426443	chr5:68360157-68360158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571946600	chr5:68360183-68360184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs386688870	chr5:68360189-68360190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146565561	chr5:68360191-68360192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535210529	chr5:68360196-68360197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532716242	chr5:68360227-68360228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553710756	chr5:68360250-68360251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188361051	chr5:68360290-68360291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11742568	chr5:68360310-68360311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562975013	chr5:68360318-68360319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116492312	chr5:68360368-68360369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373538611	chr5:68360482-68360483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531142016	chr5:68360483-68360484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68359400-68360200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:68360200-68370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68363800-68364400	Active TSS	Placenta	Placenta
4	chr5:68370200-68370600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:68370200-68370800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:68370400-68370600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:68370400-68371000	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:68370600-68370800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:68370600-68371200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:68370800-68371000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:68370800-68371000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr5:68370800-68372200	Enhancers	Colonic Mucosa	Colon
13	chr5:68370800-68372400	Enhancers	Stomach Mucosa	stomach
14	chr5:68371000-68371400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:68371000-68371800	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:68371000-68372400	Enhancers	Fetal Intestine Large	intestine
17	chr5:68371200-68371400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:68371200-68372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:68371200-68372400	Enhancers	Fetal Intestine Small	intestine
20	chr5:68371400-68371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:68371400-68372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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