Variant report

Variant	nsv999025
Chromosome Location	chr3:20738244-21042249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:106)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:
2	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
3	chr3:20956181..20956718-chr4:134686481..134686981,2	MCF-7	breast:
4	chr3:20933525..20935317-chr3:20937059..20939867,3	K562	blood:
5	chr3:20882801..20884496-chr3:20885503..20888322,2	K562	blood:
6	chr3:20837819..20840571-chr3:20854942..20856484,2	K562	blood:
7	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
8	chr3:20870583..20874508-chr3:20874990..20878063,3	K562	blood:
9	chr3:20865806..20867984-chr3:20870271..20872902,2	MCF-7	breast:
10	chr3:20780166..20782816-chr3:20783082..20785519,2	K562	blood:
11	chr3:20906112..20908398-chr3:20911514..20913727,2	K562	blood:
12	chr3:20791529..20793078-chr3:20793887..20796565,3	K562	blood:
13	chr3:20771996..20774877-chr3:20941229..20943055,2	K562	blood:
14	chr3:20870583..20874508-chr3:20874990..20878063,3	K562	blood:
15	chr3:20971297..20972149-chr3:21257804..21258756,2	MCF-7	breast:
16	chr3:20732321..20734802-chr3:20736101..20739228,3	K562	blood:
17	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
18	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:
19	chr3:20552973..20553911-chr3:20970672..20972125,8	MCF-7	breast:
20	chr3:20931106..20933009-chr3:20944076..20947005,3	K562	blood:
21	chr3:20920030..20922787-chr3:20928844..20930529,2	K562	blood:
22	chr3:20930075..20933227-chr3:20935743..20938157,3	K562	blood:
23	chr3:20931783..20933492-chr3:20955039..20957721,2	K562	blood:
24	chr3:20924826..20926791-chr3:20930314..20933043,2	K562	blood:
25	chr3:20746425..20748094-chr3:20975073..20978027,2	K562	blood:
26	chr3:20926131..20928788-chr3:20937832..20939385,2	K562	blood:
27	chr3:20964849..20967779-chr3:20982374..20984223,2	MCF-7	breast:
28	chr3:20881823..20883921-chr3:20890790..20893677,2	K562	blood:
29	chr3:20771996..20774877-chr3:20941229..20943055,2	K562	blood:
30	chr3:20381636..20382451-chr3:20971371..20972187,4	MCF-7	breast:
31	chr3:21020852..21022735-chr3:21071640..21073973,2	K562	blood:
32	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:
33	chr3:20885773..20889854-chr3:20892035..20895273,4	K562	blood:
34	chr3:20881823..20883921-chr3:20890790..20893677,2	K562	blood:
35	chr3:20800581..20802290-chr3:20809522..20812257,2	K562	blood:
36	chr3:20864204..20867034-chr3:20867315..20869207,3	K562	blood:
37	chr3:21018630..21020462-chr3:21036904..21039487,2	K562	blood:
38	chr3:20934088..20937595-chr3:20944729..20947553,4	K562	blood:
39	chr3:20849581..20851162-chr3:20931039..20933755,2	K562	blood:
40	chr3:20927362..20929640-chr3:20931820..20933882,3	K562	blood:
41	chr3:20553071..20554107-chr3:20781207..20782086,3	MCF-7	breast:
42	chr3:20938239..20939830-chr3:20940082..20941902,2	K562	blood:
43	chr3:20908678..20911215-chr3:20923449..20926169,2	K562	blood:
44	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
45	chr3:20884248..20889854-chr3:20892080..20895253,4	K562	blood:
46	chr1:11967831..11969033-chr3:20886071..20887071,5	HCT-116	colon:
47	chr3:20931783..20933492-chr3:20955039..20957721,2	K562	blood:
48	chr3:20837819..20840571-chr3:20854942..20856484,2	K562	blood:
49	chr3:20933525..20935317-chr3:20937059..20939867,3	K562	blood:
50	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-9	chr3:20947004-20947099	NONHSAT088631
2	lnc-KAT2B-10	chr3:21011809-21011871	NONHSAT088634
3	lnc-KAT2B-9	chr3:20931812-20931937	NONHSAT088631
4	lnc-KAT2B-9	chr3:20995660-20995726	NONHSAT088631
5	lnc-KAT2B-10	chr3:21011020-21011417	NONHSAT088634
6	lnc-KAT2B-8	chr3:20755529-20756407	NONHSAT088630
7	lnc-KAT2B-8	chr3:20747491-20747580	NONHSAT088630
8	lnc-KAT2B-9	chr3:20984797-20984912	NONHSAT088631

No data

Variant related genes	Relation type
ENSG00000199347	chromatin interactions
ENSG00000201801	chromatin interactions

Extended variants
information (count: 5400 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5400 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557420247	chr3:20738250-20738251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142116937	chr3:20738283-20738284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112823743	chr3:20738299-20738300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534497472	chr3:20738306-20738307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555833182	chr3:20738308-20738309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574061012	chr3:20738350-20738351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564803231	chr3:20738397-20738398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556666830	chr3:20738406-20738407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369358081	chr3:20738436-20738437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555924141	chr3:20738447-20738448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372878475	chr3:20738498-20738499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545637307	chr3:20738518-20738519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375718978	chr3:20738562-20738563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564295639	chr3:20738569-20738570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35758548	chr3:20738633-20738634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540496057	chr3:20738709-20738710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561866322	chr3:20738720-20738721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528827664	chr3:20738735-20738736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188738715	chr3:20738744-20738745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568567726	chr3:20738856-20738857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193212713	chr3:20738883-20738884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183889352	chr3:20738886-20738887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538745580	chr3:20738949-20738950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73183226	chr3:20738959-20738960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115028538	chr3:20739125-20739126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73183229	chr3:20739132-20739133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138610018	chr3:20739205-20739206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186557449	chr3:20739233-20739234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544060825	chr3:20739237-20739238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191338761	chr3:20739333-20739334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17809595	chr3:20739361-20739362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56960764	chr3:20739478-20739479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553999227	chr3:20739487-20739488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35490366	chr3:20739532-20739533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57858816	chr3:20739559-20739560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1392577	chr3:20739599-20739600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9851901	chr3:20739629-20739630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112444030	chr3:20739643-20739644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543767148	chr3:20739675-20739676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75674431	chr3:20739696-20739697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151142125	chr3:20739715-20739716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532812426	chr3:20739827-20739828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73183234	chr3:20739830-20739831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569506389	chr3:20739840-20739841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538415783	chr3:20739844-20739845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566479708	chr3:20739863-20739864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183912834	chr3:20739903-20739904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114730260	chr3:20739946-20739947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188648027	chr3:20739988-20739989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192891011	chr3:20739996-20739997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20738000-20738400	Enhancers	Fetal Lung	lung
2	chr3:20738400-20742400	Weak transcription	Fetal Lung	lung
3	chr3:20740600-20741200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:20742200-20742600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:20742200-20742600	Enhancers	Psoas Muscle	Psoas
6	chr3:20742200-20742800	Enhancers	Fetal Heart	heart
7	chr3:20742200-20744000	Enhancers	Fetal Brain Male	brain
8	chr3:20742400-20742600	Enhancers	Fetal Lung	lung
9	chr3:20742600-20743200	Weak transcription	Fetal Lung	lung
10	chr3:20742800-20743200	Weak transcription	Fetal Heart	heart
11	chr3:20743200-20743800	Enhancers	Fetal Heart	heart
12	chr3:20743400-20743600	Enhancers	Fetal Lung	lung
13	chr3:20752400-20753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:20777600-20777800	Enhancers	Fetal Lung	lung
15	chr3:20777800-20784600	Weak transcription	Fetal Lung	lung
16	chr3:20779600-20780000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:20780000-20784000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:20780400-20781600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:20780600-20781400	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:20780800-20781000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:20781000-20781400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:20781000-20781400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:20781000-20781400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:20781000-20781400	Enhancers	Adipose Nuclei	Adipose
25	chr3:20781000-20783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:20781200-20781400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:20781200-20781400	Enhancers	Liver	Liver
28	chr3:20781400-20783000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:20781400-20784600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:20781600-20782800	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:20782000-20783400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:20782600-20786400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:20782800-20783200	Enhancers	Colon Smooth Muscle	Colon
34	chr3:20782800-20784200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:20783000-20783600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:20783000-20783600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:20783200-20783400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:20783200-20784600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:20783200-20784600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:20783200-20784800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:20783200-20786000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:20783600-20784200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:20783600-20784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:20783600-20784600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:20783800-20784600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:20783800-20784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:20784000-20786000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:20784000-20787400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:20784200-20784600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:20784200-20784600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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