Variant report

Variant	nsv877230
Chromosome Location	chr3:102457118-102635852
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	CCNT2	chr3:102592280-102592455	K562	blood:	n/a	n/a
2	CEBPB	chr3:102604626-102604906	HepG2	liver:	n/a	chr3:102604766-102604777
3	CEBPB	chr3:102476762-102477185	HepG2	liver:	n/a	chr3:102476939-102476950
4	CEBPB	chr3:102475613-102475945	Hela-S3	cervix:	n/a	chr3:102475781-102475792
5	CEBPB	chr3:102615745-102616028	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr3:102546992-102547331	HepG2	liver:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
7	CEBPB	chr3:102546983-102547284	A549	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
8	CEBPB	chr3:102614513-102614802	HepG2	liver:	n/a	chr3:102614668-102614681 chr3:102614669-102614680
9	CEBPB	chr3:102475598-102475934	IMR90	lung:	n/a	chr3:102475781-102475792
10	CEBPB	chr3:102506368-102506401	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr3:102475608-102475964	HepG2	liver:	n/a	chr3:102475781-102475792
12	CEBPB	chr3:102476791-102477082	Hela-S3	cervix:	n/a	chr3:102476939-102476950
13	CEBPB	chr3:102475636-102475943	A549	lung:	n/a	chr3:102475781-102475792
14	CEBPB	chr3:102476759-102477129	IMR90	lung:	n/a	chr3:102476939-102476950
15	CEBPB	chr3:102570426-102570698	A549	lung:	n/a	chr3:102570542-102570553
16	CEBPB	chr3:102615769-102615969	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr3:102509685-102509952	IMR90	lung:	n/a	n/a
18	CEBPB	chr3:102546996-102547302	Hela-S3	cervix:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
19	CEBPB	chr3:102570456-102570693	HepG2	liver:	n/a	chr3:102570542-102570553
20	CEBPB	chr3:102476803-102477037	H1-hESC	embryonic stem cell:	n/a	chr3:102476939-102476950
21	CEBPB	chr3:102580907-102581127	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:102475622-102475965	H1-hESC	embryonic stem cell:	n/a	chr3:102475781-102475792
23	CEBPB	chr3:102546985-102547314	IMR90	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
24	CEBPB	chr3:102635376-102635708	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr3:102476691-102477111	A549	lung:	n/a	chr3:102476939-102476950
26	CEBPB	chr3:102506236-102506316	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr3:102580890-102581090	A549	lung:	n/a	n/a
28	CEBPB	chr3:102506169-102506329	A549	lung:	n/a	n/a
29	CEBPB	chr3:102570410-102570681	Hela-S3	cervix:	n/a	chr3:102570542-102570553
30	CEBPB	chr3:102491824-102492038	A549	lung:	n/a	n/a
31	CEBPB	chr3:102523312-102523449	A549	lung:	n/a	n/a
32	CTCF	chr3:102464840-102464990	HRE	kidney:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
33	CTCF	chr3:102460069-102460311	GM19240	blood:	n/a	n/a
34	CTCF	chr3:102460100-102460250	GM12865	blood:	n/a	n/a
35	CTCF	chr3:102460180-102460330	HRE	kidney:	n/a	n/a
36	CTCF	chr3:102459860-102460010	NHEK	skin:	n/a	n/a
37	CTCF	chr3:102464858-102464998	SK-N-SH_RA	brain:	n/a	chr3:102464921-102464937 chr3:102464920-102464938 chr3:102464922-102464943
38	CTCF	chr3:102464740-102464890	RPTEC	kidney:	n/a	n/a
39	CTCF	chr3:102460150-102460202	GM10266	blood:	n/a	n/a
40	CTCF	chr3:102460040-102460298	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:102459988-102460322	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:102459702-102459853	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr3:102473514-102473625	GM13976	blood:	n/a	n/a
44	CTCF	chr3:102460100-102460250	BE2_C	brain:	n/a	n/a
45	CTCF	chr3:102460060-102460210	SAEC	small airway:	n/a	n/a
46	CTCF	chr3:102460063-102460251	A549	lung:	n/a	n/a
47	CTCF	chr3:102460140-102460290	BJ	skin:	n/a	n/a
48	CTCF	chr3:102460080-102460230	HEK293	kidney:	n/a	n/a
49	CTCF	chr3:102578700-102578850	BE2_C	brain:	n/a	n/a
50	CTCF	chr3:102460080-102460230	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
2	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
3	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
4	chr3:101954215..101955159-chr3:102459734..102460417,3	MCF-7	breast:
5	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
6	chr3:102464455..102465347-chr3:103014445..103015094,2	MCF-7	breast:
7	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
8	chr3:101954266..101954823-chr3:102459665..102460276,2	MCF-7	breast:
9	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
10	chr3:102392117..102393057-chr3:102459325..102460566,3	MCF-7	breast:
11	chr3:102390944..102392108-chr3:102459462..102460176,3	MCF-7	breast:
12	chr3:102391655..102393123-chr3:102459418..102460722,10	MCF-7	breast:
13	chr3:102189575..102190143-chr3:102459670..102460629,2	MCF-7	breast:
14	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
15	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:

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

Extended variants
information (count: 1710 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6768201	chr3:102457118-102457119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191069578	chr3:102457146-102457147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183159079	chr3:102457163-102457164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535795675	chr3:102457179-102457180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187483715	chr3:102457201-102457202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557718157	chr3:102457226-102457227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575920847	chr3:102457235-102457236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191935277	chr3:102457245-102457246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184059881	chr3:102457246-102457247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576600487	chr3:102457289-102457290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138026544	chr3:102457330-102457331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149501297	chr3:102457358-102457359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531075543	chr3:102457367-102457368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564007222	chr3:102457373-102457374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144062603	chr3:102457378-102457379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545336461	chr3:102457412-102457413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6768503	chr3:102457419-102457420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12486666	chr3:102457422-102457423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546783589	chr3:102457448-102457449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188064161	chr3:102457538-102457539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192372056	chr3:102457542-102457543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184655408	chr3:102457558-102457559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569641895	chr3:102457637-102457638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536970117	chr3:102457652-102457653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558394029	chr3:102457669-102457670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576634332	chr3:102457724-102457725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534766193	chr3:102457742-102457743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552837662	chr3:102457753-102457754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574460574	chr3:102457755-102457756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189169280	chr3:102457771-102457772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182015641	chr3:102457774-102457775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563296807	chr3:102457780-102457781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148261072	chr3:102457817-102457818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141862565	chr3:102457831-102457832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184859988	chr3:102457953-102457954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75093647	chr3:102458024-102458025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540812879	chr3:102458034-102458035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562073470	chr3:102458053-102458054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529366207	chr3:102458083-102458084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531467994	chr3:102458084-102458085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74496408	chr3:102458089-102458090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533113401	chr3:102458149-102458150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189136137	chr3:102458195-102458196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111842194	chr3:102458198-102458199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77100826	chr3:102458214-102458215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9845442	chr3:102458219-102458220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531963530	chr3:102458251-102458252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542357417	chr3:102458262-102458263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139568366	chr3:102458276-102458277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181513843	chr3:102458288-102458289	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102452200-102457600	Enhancers	Fetal Heart	heart
2	chr3:102453800-102460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:102455200-102460200	Weak transcription	Ovary	ovary
4	chr3:102456600-102459200	Weak transcription	Right Atrium	heart
5	chr3:102457600-102459400	Weak transcription	Fetal Heart	heart
6	chr3:102459400-102460600	Enhancers	Fetal Heart	heart
7	chr3:102459600-102459800	Enhancers	Right Atrium	heart
8	chr3:102460000-102460800	Enhancers	Liver	Liver
9	chr3:102460200-102460800	Enhancers	Ovary	ovary
10	chr3:102460600-102460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:102460600-102462800	Weak transcription	Fetal Heart	heart
12	chr3:102462800-102463400	Enhancers	Fetal Heart	heart
13	chr3:102464600-102464800	Enhancers	Fetal Lung	lung
14	chr3:102464800-102467800	Weak transcription	Fetal Lung	lung
15	chr3:102466400-102466600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:102466400-102471000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:102466600-102467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:102466600-102470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:102466800-102467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:102467200-102468600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:102467400-102469400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:102467600-102467800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:102467600-102469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:102467800-102468000	Enhancers	Fetal Lung	lung
25	chr3:102468000-102470400	Weak transcription	Fetal Lung	lung
26	chr3:102468400-102469000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:102468600-102469000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:102468600-102469200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:102468600-102471200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:102468800-102470000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:102469000-102470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:102469400-102470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:102469400-102470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:102470000-102471000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:102470400-102470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:102470400-102471400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:102470800-102471200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:102471000-102471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:102471000-102471200	Enhancers	Fetal Lung	lung
40	chr3:102475200-102477400	Enhancers	Liver	Liver
41	chr3:102483000-102483400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr3:102483000-102483600	Enhancers	Stomach Mucosa	stomach
43	chr3:102492400-102492800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:102492800-102493400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:102493400-102493600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:102507400-102509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:102507600-102508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:102508000-102509800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:102508200-102508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:102508200-102508600	Enhancers	HUES6 Cell Line	embryonic stem cell

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