Variant report

Variant	nsv1013012
Chromosome Location	chr3:102458158-102587883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:102476691-102477111	A549	lung:	n/a	chr3:102476939-102476950
2	CEBPB	chr3:102491824-102492038	A549	lung:	n/a	n/a
3	CEBPB	chr3:102580907-102581127	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:102506169-102506329	A549	lung:	n/a	n/a
5	CEBPB	chr3:102580890-102581090	A549	lung:	n/a	n/a
6	CEBPB	chr3:102570410-102570681	Hela-S3	cervix:	n/a	chr3:102570542-102570553
7	CEBPB	chr3:102570456-102570693	HepG2	liver:	n/a	chr3:102570542-102570553
8	CEBPB	chr3:102475608-102475964	HepG2	liver:	n/a	chr3:102475781-102475792
9	CEBPB	chr3:102476759-102477129	IMR90	lung:	n/a	chr3:102476939-102476950
10	CEBPB	chr3:102475622-102475965	H1-hESC	embryonic stem cell:	n/a	chr3:102475781-102475792
11	CEBPB	chr3:102506368-102506401	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr3:102546992-102547331	HepG2	liver:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
13	CEBPB	chr3:102475598-102475934	IMR90	lung:	n/a	chr3:102475781-102475792
14	CEBPB	chr3:102475613-102475945	Hela-S3	cervix:	n/a	chr3:102475781-102475792
15	CEBPB	chr3:102546985-102547314	IMR90	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
16	CEBPB	chr3:102476762-102477185	HepG2	liver:	n/a	chr3:102476939-102476950
17	CEBPB	chr3:102506236-102506316	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:102476791-102477082	Hela-S3	cervix:	n/a	chr3:102476939-102476950
19	CEBPB	chr3:102509685-102509952	IMR90	lung:	n/a	n/a
20	CEBPB	chr3:102546996-102547302	Hela-S3	cervix:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
21	CEBPB	chr3:102523312-102523449	A549	lung:	n/a	n/a
22	CEBPB	chr3:102546983-102547284	A549	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
23	CEBPB	chr3:102570426-102570698	A549	lung:	n/a	chr3:102570542-102570553
24	CEBPB	chr3:102475636-102475943	A549	lung:	n/a	chr3:102475781-102475792
25	CEBPB	chr3:102476803-102477037	H1-hESC	embryonic stem cell:	n/a	chr3:102476939-102476950
26	CTCF	chr3:102460060-102460210	SAEC	small airway:	n/a	n/a
27	CTCF	chr3:102459724-102459850	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:102460114-102460243	GM10248	blood:	n/a	n/a
29	CTCF	chr3:102555776-102555802	Lung_OC	lung:	n/a	n/a
30	CTCF	chr3:102574726-102574799	GM10248	blood:	n/a	n/a
31	CTCF	chr3:102460118-102460263	HepG2	liver:	n/a	n/a
32	CTCF	chr3:102464815-102465022	SK-N-SH_RA	brain:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
33	CTCF	chr3:102459735-102459855	GM19238	blood:	n/a	n/a
34	CTCF	chr3:102460100-102460250	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr3:102583620-102583770	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr3:102464825-102465003	H1-hESC	embryonic stem cell:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
37	CTCF	chr3:102464840-102464990	AG04449	skin:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
38	CTCF	chr3:102464760-102464910	NB4	blood:	n/a	n/a
39	CTCF	chr3:102460100-102460250	AG10803	skin:	n/a	n/a
40	CTCF	chr3:102459680-102459830	HCT-116	colon:	n/a	n/a
41	CTCF	chr3:102464740-102464890	HAc	cerebellar:	n/a	n/a
42	CTCF	chr3:102578759-102578777	GM10266	blood:	n/a	n/a
43	CTCF	chr3:102460100-102460250	GM12864	blood:	n/a	n/a
44	CTCF	chr3:102578720-102578870	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr3:102464914-102464935	GM13977	blood:	n/a	n/a
46	CTCF	chr3:102460100-102460250	AG04449	skin:	n/a	n/a
47	CTCF	chr3:102459988-102460322	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr3:102464858-102465017	GM12878	blood:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
49	CTCF	chr3:102460078-102460261	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:102464840-102464990	HMEC	breast:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943

No.	Distal block	Cell Line	Cell type
1	chr3:102392117..102393057-chr3:102459325..102460566,3	MCF-7	breast:
2	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
3	chr3:102390944..102392108-chr3:102459462..102460176,3	MCF-7	breast:
4	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
5	chr3:102391655..102393123-chr3:102459418..102460722,10	MCF-7	breast:
6	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
7	chr3:101954266..101954823-chr3:102459665..102460276,2	MCF-7	breast:
8	chr3:102464455..102465347-chr3:103014445..103015094,2	MCF-7	breast:
9	chr3:102189575..102190143-chr3:102459670..102460629,2	MCF-7	breast:
10	chr3:101954215..101955159-chr3:102459734..102460417,3	MCF-7	breast:
11	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-461P	TF binding region
ENSG00000241754	chromatin interactions

Extended variants
information (count: 1377 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189136137	chr3:102458195-102458196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111842194	chr3:102458198-102458199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77100826	chr3:102458214-102458215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9845442	chr3:102458219-102458220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531963530	chr3:102458251-102458252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542357417	chr3:102458262-102458263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139568366	chr3:102458276-102458277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181513843	chr3:102458288-102458289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144272526	chr3:102458295-102458296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78255251	chr3:102458302-102458303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575315423	chr3:102458334-102458335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566206753	chr3:102458349-102458350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545813659	chr3:102458414-102458415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370623685	chr3:102458415-102458416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186381534	chr3:102458452-102458453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75550371	chr3:102458470-102458471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540498266	chr3:102458532-102458533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150631404	chr3:102458562-102458563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139796374	chr3:102458570-102458571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548404958	chr3:102458585-102458586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149812040	chr3:102458589-102458590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562593264	chr3:102458602-102458603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191583520	chr3:102458610-102458611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551350552	chr3:102458625-102458626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141847059	chr3:102458626-102458627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544644879	chr3:102458648-102458649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570684726	chr3:102458692-102458693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145710425	chr3:102458693-102458694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181259684	chr3:102458701-102458702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568258505	chr3:102458714-102458715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147765611	chr3:102458727-102458728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9822912	chr3:102458793-102458794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141162323	chr3:102458845-102458846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539475529	chr3:102458861-102458862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77283542	chr3:102458869-102458870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186191775	chr3:102458882-102458883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189646231	chr3:102458904-102458905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183286348	chr3:102458906-102458907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187625852	chr3:102458926-102458927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113363427	chr3:102458979-102458980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574177877	chr3:102459020-102459021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35402674	chr3:102459023-102459024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544396711	chr3:102459034-102459035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537192167	chr3:102459049-102459050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562682280	chr3:102459135-102459136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577698770	chr3:102459154-102459155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545072975	chr3:102459173-102459174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115407306	chr3:102459178-102459179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558782523	chr3:102459181-102459182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190500175	chr3:102459249-102459250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102453800-102460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:102455200-102460200	Weak transcription	Ovary	ovary
3	chr3:102456600-102459200	Weak transcription	Right Atrium	heart
4	chr3:102457600-102459400	Weak transcription	Fetal Heart	heart
5	chr3:102459400-102460600	Enhancers	Fetal Heart	heart
6	chr3:102459600-102459800	Enhancers	Right Atrium	heart
7	chr3:102460000-102460800	Enhancers	Liver	Liver
8	chr3:102460200-102460800	Enhancers	Ovary	ovary
9	chr3:102460600-102460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:102460600-102462800	Weak transcription	Fetal Heart	heart
11	chr3:102462800-102463400	Enhancers	Fetal Heart	heart
12	chr3:102464600-102464800	Enhancers	Fetal Lung	lung
13	chr3:102464800-102467800	Weak transcription	Fetal Lung	lung
14	chr3:102466400-102466600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:102466400-102471000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:102466600-102467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:102466600-102470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:102466800-102467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:102467200-102468600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:102467400-102469400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:102467600-102467800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:102467600-102469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:102467800-102468000	Enhancers	Fetal Lung	lung
24	chr3:102468000-102470400	Weak transcription	Fetal Lung	lung
25	chr3:102468400-102469000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:102468600-102469000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:102468600-102469200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:102468600-102471200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:102468800-102470000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:102469000-102470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:102469400-102470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:102469400-102470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:102470000-102471000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:102470400-102470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:102470400-102471400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:102470800-102471200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:102471000-102471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:102471000-102471200	Enhancers	Fetal Lung	lung
39	chr3:102475200-102477400	Enhancers	Liver	Liver
40	chr3:102483000-102483400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr3:102483000-102483600	Enhancers	Stomach Mucosa	stomach
42	chr3:102492400-102492800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:102492800-102493400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:102493400-102493600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr3:102507400-102509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:102507600-102508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:102508000-102509800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:102508200-102508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:102508200-102508600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:102508200-102508600	Enhancers	HUES64 Cell Line	embryonic stem cell

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