Variant report

Variant	nsv875247
Chromosome Location	chr2:142527100-142569099
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	BACH1	chr2:142530297-142530358	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:142556827-142557091	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:142549134-142549357	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:142527770-142527964	HepG2	liver:	n/a	chr2:142527873-142527882 chr2:142527873-142527884
5	CEBPB	chr2:142549199-142549267	A549	lung:	n/a	n/a
6	CEBPB	chr2:142533978-142534245	HepG2	liver:	n/a	chr2:142534106-142534117
7	CEBPB	chr2:142564329-142564530	HepG2	liver:	n/a	chr2:142564423-142564436 chr2:142564423-142564434
8	CEBPB	chr2:142549080-142549369	HepG2	liver:	n/a	chr2:142549089-142549101
9	CTCF	chr2:142549353-142549358	LNCaP	prostate:	n/a	n/a
10	CTCF	chr2:142528158-142528386	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:142549302-142549350	LNCaP	prostate:	n/a	n/a
12	CTCF	chr2:142528268-142528311	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr2:142555247-142555282	GM12878	blood:	n/a	n/a
14	EP300	chr2:142556839-142557090	GM12878	blood:	n/a	n/a
15	FOS	chr2:142542107-142542300	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXM1	chr2:142556743-142557066	GM12878	blood:	n/a	n/a
17	IRF3	chr2:142560418-142560430	GM12878	blood:	n/a	n/a
18	JUND	chr2:142563435-142563660	HepG2	liver:	n/a	chr2:142563497-142563508 chr2:142563500-142563507 chr2:142563498-142563508 chr2:142563497-142563509 chr2:142563499-142563507 chr2:142563499-142563508
19	MAFF	chr2:142540216-142540482	K562	blood:	n/a	n/a
20	MAFF	chr2:142554068-142554318	K562	blood:	n/a	chr2:142554201-142554219 chr2:142554200-142554214
21	MAFF	chr2:142540161-142540517	HepG2	liver:	n/a	n/a
22	MAFF	chr2:142554060-142554381	HepG2	liver:	n/a	chr2:142554201-142554219 chr2:142554200-142554214
23	MAFK	chr2:142540169-142540458	K562	blood:	n/a	n/a
24	MAFK	chr2:142540165-142540523	IMR90	lung:	n/a	n/a
25	MAFK	chr2:142540157-142540520	HepG2	liver:	n/a	n/a
26	MAFK	chr2:142554045-142554380	HepG2	liver:	n/a	chr2:142554197-142554217 chr2:142554199-142554215 chr2:142554201-142554211 chr2:142554200-142554214 chr2:142554202-142554217
27	MAFK	chr2:142554031-142554387	HepG2	liver:	n/a	chr2:142554197-142554217 chr2:142554199-142554215 chr2:142554201-142554211 chr2:142554200-142554214 chr2:142554202-142554217
28	MAFK	chr2:142554084-142554370	K562	blood:	n/a	chr2:142554197-142554217 chr2:142554199-142554215 chr2:142554201-142554211 chr2:142554200-142554214 chr2:142554202-142554217
29	MAFK	chr2:142554103-142554371	H1-hESC	embryonic stem cell:	n/a	chr2:142554197-142554217 chr2:142554199-142554215 chr2:142554201-142554211 chr2:142554200-142554214 chr2:142554202-142554217
30	MAFK	chr2:142540157-142540514	HepG2	liver:	n/a	n/a
31	MAFK	chr2:142566861-142567022	HepG2	liver:	n/a	chr2:142566999-142567014
32	MAFK	chr2:142554063-142554378	IMR90	lung:	n/a	chr2:142554197-142554217 chr2:142554199-142554215 chr2:142554201-142554211 chr2:142554200-142554214 chr2:142554202-142554217
33	MAFK	chr2:142540186-142540474	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr2:142566894-142567084	HepG2	liver:	n/a	chr2:142566999-142567014
35	MAFK	chr2:142542756-142542796	HepG2	liver:	n/a	n/a
36	MAZ	chr2:142539621-142539622	Hela-S3	cervix:	n/a	n/a
37	MYC	chr2:142530548-142530729	MCF10A-Er-Src	breast:	n/a	n/a
38	NFIC	chr2:142556653-142557178	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:142532844-142532936	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:142563307-142563373	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:142528397-142528531	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:142542289-142542487	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:142527274-142527310	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:142559896-142559987	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr2:142527241-142527262	MCF-7	breast:	n/a	n/a
46	RAD21	chr2:142528016-142528424	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr2:142528118-142528455	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr2:142528161-142528449	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr2:142535195-142535283	PANC-1	pancreas:	n/a	n/a
50	RFX5	chr2:142542171-142542365	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:142530447-142530497	HEK293	kidney:	embryo
2	chr2:142530447-142530497	BJ	skin:	n/a
3	chr2:142530447-142530497	HCF	heart:	n/a
4	chr2:142530447-142530497	K562	blood:	n/a
5	chr2:142530447-142530497	ECC-1	luminal epithelium:	n/a
6	chr2:142530447-142530497	SK-N-SH	brain:	n/a
7	chr2:142530447-142530497	AG09309	skin:	n/a
8	chr2:142530447-142530497	HL-60	blood:	n/a
9	chr2:142530447-142530497	Jurkat	blood:	n/a
10	chr2:142530447-142530497	HCPEpiC	choroid plexus:	n/a
11	chr2:142530447-142530497	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:142530447-142530497	SK-N-MC	brain:	n/a
13	chr2:142530447-142530497	SAEC	small airway:	n/a
14	chr2:142530447-142530497	AG10803	skin:	n/a
15	chr2:142530447-142530497	SK-N-SH_RA	brain:	n/a
16	chr2:142530447-142530497	HCT-116	colon:	n/a
17	chr2:142530447-142530497	AG09319	gingival:	n/a
18	chr2:142530447-142530497	A549	lung:	n/a
19	chr2:142530447-142530497	AoSMC	blood vessel:	n/a
20	chr2:142530447-142530497	Hela-S3	cervix:	n/a
21	chr2:142530447-142530497	MCF-7	breast:	n/a
22	chr2:142530447-142530497	GM12878	blood:	n/a
23	chr2:142530447-142530497	HMEC	breast:	n/a
24	chr2:142530447-142530497	MCF10A-Er-Src	breast:	n/a
25	chr2:142530447-142530497	H1-hESC	embryonic stem cell:	embryo
26	chr2:142530447-142530497	NHBE	bronchial:	n/a
27	chr2:142530447-142530497	BE2_C	brain:	n/a
28	chr2:142530447-142530497	HEEpiC	esophagus:	n/a
29	chr2:142530447-142530497	HRPEpiC	eye:	n/a
30	chr2:142530447-142530497	CMK	blood:	n/a
31	chr2:142530447-142530497	RPTEC	kidney:	n/a
32	chr2:142530447-142530497	PFSK-1	brain:	n/a
33	chr2:142530447-142530497	ProgFib	skin:	n/a
34	chr2:142530447-142530497	PANC-1	pancreas:	n/a
35	chr2:142530447-142530497	GM19239	blood:	n/a
36	chr2:142530447-142530497	Hepatocyte	liver:	n/a
37	chr2:142530447-142530497	HRE	kidney:	n/a
38	chr2:142530447-142530497	HAEpiC	amniotic membrane:	n/a
39	chr2:142530447-142530497	SKMC	muscle:	n/a
40	chr2:142530447-142530497	HepG2	liver:	n/a
41	chr2:142530447-142530497	AG04450	lung:	fetal
42	chr2:142530447-142530497	LNCaP	prostate:	n/a
43	chr2:142530447-142530497	AG04449	skin:	fetal
44	chr2:142530447-142530497	IMR90	lung:	fetal
45	chr2:142530447-142530497	GM12892	blood:	n/a
46	chr2:142530447-142530497	GM06990	blood:	n/a
47	chr2:142530447-142530497	HCM	heart:	n/a
48	chr2:142530447-142530497	NHDF-neo	bronchial:	n/a
49	chr2:142530447-142530497	HIPEpiC	eye:	n/a
50	chr2:142530447-142530497	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:142532703..142535665-chr2:142536672..142538561,2	MCF-7	breast:
2	chr2:142536364..142538824-chr2:142574055..142576511,2	K562	blood:
3	chr2:142532703..142535665-chr2:142536672..142538561,2	MCF-7	breast:
4	chr2:142538922..142540737-chr2:142542566..142546321,3	MCF-7	breast:
5	chr2:142538922..142540737-chr2:142542566..142546321,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTDC1-26	chr2:142562933-142563323	NONHSAT074708
2	lnc-GTDC1-26	chr2:142567848-142567970	NONHSAT074708

Variant related genes	Relation type
LRP1B	TF binding region
LRP1B	CpG island

Extended variants
information (count: 548 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:548 , 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	rs4954923	chr2:142527100-142527101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141814930	chr2:142527132-142527133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540637758	chr2:142527203-142527204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145463936	chr2:142527265-142527266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566593132	chr2:142527276-142527277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535392121	chr2:142527288-142527289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148715991	chr2:142527378-142527379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190389608	chr2:142527396-142527397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568760345	chr2:142527420-142527421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537388439	chr2:142527517-142527518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192325825	chr2:142527527-142527528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16847100	chr2:142527546-142527547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540041601	chr2:142527553-142527554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553166443	chr2:142527572-142527573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573007216	chr2:142527577-142527578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562161231	chr2:142527580-142527581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10185048	chr2:142527586-142527587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547564141	chr2:142527594-142527595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148021981	chr2:142527596-142527597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544209393	chr2:142527599-142527600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76586167	chr2:142527610-142527611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184712550	chr2:142527638-142527639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368720685	chr2:142527658-142527659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141733868	chr2:142527665-142527666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560249910	chr2:142527692-142527693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529039133	chr2:142527710-142527711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556968194	chr2:142527730-142527731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548994637	chr2:142527737-142527738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77215074	chr2:142527740-142527741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568895947	chr2:142527745-142527746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375013940	chr2:142527770-142527771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550956902	chr2:142527791-142527792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571147291	chr2:142527877-142527878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548120108	chr2:142527904-142527905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539601486	chr2:142527917-142527918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553163877	chr2:142527941-142527942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188033447	chr2:142527944-142527945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563103411	chr2:142527948-142527949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180912521	chr2:142527955-142527956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186230255	chr2:142527997-142527998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575271449	chr2:142528007-142528008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544611397	chr2:142528069-142528070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530622822	chr2:142528089-142528090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10164495	chr2:142528099-142528100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189493808	chr2:142528114-142528115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540044174	chr2:142528122-142528123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560435512	chr2:142528123-142528124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549915824	chr2:142528125-142528126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528972765	chr2:142528129-142528130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549131600	chr2:142528139-142528140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142525000-142527200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:142525000-142530200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:142525400-142527200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:142525400-142528000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:142526200-142527200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:142527000-142527400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:142527000-142527800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:142527200-142528400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:142527200-142528400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:142527200-142528600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:142527200-142528600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:142527400-142530200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:142527800-142528200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:142528000-142528400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:142528200-142530200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:142528400-142530200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:142528400-142530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:142528400-142530200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:142528600-142530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:142530200-142530400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:142530200-142530600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:142530200-142530800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:142530200-142531200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:142530200-142531400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:142530200-142531400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:142530200-142531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:142530400-142530800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:142530800-142531200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:142535600-142536000	Enhancers	Dnd41	blood
30	chr2:142536000-142536400	Flanking Active TSS	Dnd41	blood
31	chr2:142536200-142536400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:142536400-142537000	Enhancers	Dnd41	blood
33	chr2:142539800-142540200	Enhancers	Fetal Brain Male	brain
34	chr2:142554200-142554600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:142558800-142559200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:142559000-142559800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:142559600-142560000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:142562000-142566400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:142567600-142568200	Enhancers	HUES48 Cell Line	embryonic stem cell

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