Variant report

Variant	nsv584034
Chromosome Location	chr2:188103476-188143677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:188128538-188128835	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:188128014-188128379	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:188128072-188128355	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:188107016-188107020	IMR90	lung:	n/a	n/a
5	CTCF	chr2:188136740-188136890	GM06990	blood:	n/a	n/a
6	CTCF	chr2:188120802-188120876	Fibrobl	skin:	n/a	n/a
7	CTCF	chr2:188136700-188136850	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr2:188136640-188136790	GM12873	blood:	n/a	n/a
9	CTCF	chr2:188125400-188125509	LNCaP	prostate:	n/a	n/a
10	CTCF	chr2:188125483-188125545	GM10248	blood:	n/a	n/a
11	CTCF	chr2:188136727-188136805	GM12878	blood:	n/a	n/a
12	CTCF	chr2:188136620-188136770	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr2:188136723-188136797	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:188136657-188136930	GM12878	blood:	n/a	n/a
15	CTCF	chr2:188136660-188136810	GM12875	blood:	n/a	n/a
16	CTCF	chr2:188132300-188132450	GM12869	blood:	n/a	n/a
17	CTCF	chr2:188125440-188125474	Lung_OC	lung:	n/a	n/a
18	CTCF	chr2:188136750-188136786	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:188136720-188136870	HMEC	breast:	n/a	n/a
20	CTCF	chr2:188136755-188136832	HepG2	liver:	n/a	n/a
21	CTCF	chr2:188136680-188136830	GM12864	blood:	n/a	n/a
22	CTCF	chr2:188136640-188136790	Caco-2	colon:	n/a	n/a
23	CTCF	chr2:188136680-188136830	HMEC	breast:	n/a	n/a
24	E2F4	chr2:188139370-188139418	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr2:188119679-188119976	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F6	chr2:188128942-188129586	H1-hESC	embryonic stem cell:	n/a	n/a
27	EP300	chr2:188105862-188106132	SK-N-SH_RA	brain:	n/a	n/a
28	FAM48A	chr2:188107343-188107487	GM12878	blood:	n/a	n/a
29	FOS	chr2:188128572-188129748	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr2:188121416-188121522	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:188121389-188121471	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA2	chr2:188128589-188129948	HUVEC	blood vessel:	n/a	chr2:188129522-188129543 chr2:188129529-188129536 chr2:188129528-188129538 chr2:188129529-188129536 chr2:188129630-188129641 chr2:188129525-188129541 chr2:188129529-188129536 chr2:188129529-188129538
33	GATA3	chr2:188138716-188139223	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr2:188134308-188134387	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr2:188138694-188139347	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr2:188129284-188129715	SK-N-SH	brain:	n/a	chr2:188129522-188129543 chr2:188129529-188129536 chr2:188129528-188129538 chr2:188129529-188129536 chr2:188129630-188129641 chr2:188129525-188129541 chr2:188129529-188129536 chr2:188129529-188129538
37	GATA3	chr2:188115039-188115152	SH-SY5Y	brain:	n/a	n/a
38	IRF1	chr2:188130750-188130808	K562	blood:	n/a	n/a
39	IRF1	chr2:188107614-188107655	K562	blood:	n/a	n/a
40	IRF3	chr2:188103609-188103675	GM12878	blood:	n/a	n/a
41	JUN	chr2:188128547-188129875	HUVEC	blood vessel:	n/a	n/a
42	JUN	chr2:188130961-188131236	HepG2	liver:	n/a	chr2:188131093-188131106
43	JUND	chr2:188132956-188132990	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr2:188130938-188131228	HepG2	liver:	n/a	n/a
45	KAP1	chr2:188119372-188119595	K562	blood:	n/a	n/a
46	MAFF	chr2:188126494-188126757	HepG2	liver:	n/a	chr2:188126614-188126632
47	MAFF	chr2:188122458-188122465	K562	blood:	n/a	n/a
48	MAFF	chr2:188114905-188115236	HepG2	liver:	n/a	chr2:188115055-188115073
49	MAFF	chr2:188114967-188115191	K562	blood:	n/a	chr2:188115055-188115073
50	MAFK	chr2:188114899-188115228	IMR90	lung:	n/a	chr2:188115056-188115071 chr2:188115051-188115071

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188128809-188128859	HCPEpiC	choroid plexus:	n/a
2	chr2:188128809-188128859	HNPCEpiC	eye:	n/a
3	chr2:188128809-188128859	NH-A	brain:	n/a
4	chr2:188128809-188128859	HEEpiC	esophagus:	n/a
5	chr2:188128809-188128859	BE2_C	brain:	n/a
6	chr2:188128809-188128859	NHBE	bronchial:	n/a
7	chr2:188128809-188128859	ECC-1	luminal epithelium:	n/a
8	chr2:188128809-188128859	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:188128809-188128859	PANC-1	pancreas:	n/a
10	chr2:188128809-188128859	HIPEpiC	eye:	n/a
11	chr2:188128809-188128859	T-47D	breast:	n/a
12	chr2:188128809-188128859	Hela-S3	cervix:	n/a
13	chr2:188128809-188128859	NT2-D1	testis:	n/a
14	chr2:188128809-188128859	HMEC	breast:	n/a
15	chr2:188128809-188128859	AG10803	skin:	n/a
16	chr2:188128809-188128859	HEK293	kidney:	embryo
17	chr2:188128809-188128859	HRE	kidney:	n/a
18	chr2:188128809-188128859	HepG2	liver:	n/a
19	chr2:188128809-188128859	NHDF-neo	bronchial:	n/a
20	chr2:188128809-188128859	HL-60	blood:	n/a
21	chr2:188128809-188128859	AG04449	skin:	fetal
22	chr2:188128809-188128859	HRCEpiC	kidney:	n/a
23	chr2:188128809-188128859	GM19239	blood:	n/a
24	chr2:188128809-188128859	AG09309	skin:	n/a
25	chr2:188128809-188128859	H1-hESC	embryonic stem cell:	embryo
26	chr2:188128809-188128859	SKMC	muscle:	n/a
27	chr2:188128809-188128859	MCF10A-Er-Src	breast:	n/a
28	chr2:188128809-188128859	GM12892	blood:	n/a
29	chr2:188128809-188128859	GM12878	blood:	n/a
30	chr2:188128809-188128859	A549	lung:	n/a
31	chr2:188128809-188128859	MCF-7	breast:	n/a
32	chr2:188128809-188128859	RPTEC	kidney:	n/a
33	chr2:188128809-188128859	SK-N-SH_RA	brain:	n/a
34	chr2:188128809-188128859	AG04450	lung:	fetal
35	chr2:188128809-188128859	Caco-2	colon:	n/a
36	chr2:188128809-188128859	SAEC	small airway:	n/a
37	chr2:188128809-188128859	Hepatocyte	liver:	n/a
38	chr2:188128809-188128859	HUVEC	blood vessel:	n/a
39	chr2:188128809-188128859	SK-N-SH	brain:	n/a
40	chr2:188128809-188128859	NB4	blood:	n/a
41	chr2:188128809-188128859	K562	blood:	n/a
42	chr2:188128809-188128859	LNCaP	prostate:	n/a
43	chr2:188128809-188128859	PrEC	prostate:	n/a
44	chr2:188128809-188128859	SK-N-MC	brain:	n/a
45	chr2:188128809-188128859	HCM	heart:	n/a
46	chr2:188128809-188128859	CMK	blood:	n/a
47	chr2:188128809-188128859	GM06990	blood:	n/a
48	chr2:188128809-188128859	HCF	heart:	n/a
49	chr2:188128809-188128859	HAEpiC	amniotic membrane:	n/a
50	chr2:188128809-188128859	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:188110055..188111838-chr2:188114697..188116780,2	K562	blood:
2	chr2:188108987..188110844-chr2:188112727..188114579,2	K562	blood:
3	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:
4	chr2:188115424..188118005-chr2:188119188..188121188,2	MCF-7	breast:
5	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:
6	chr2:188110055..188111838-chr2:188114697..188116780,2	K562	blood:
7	chr2:188115424..188118005-chr2:188119188..188121188,2	MCF-7	breast:
8	chr2:188108987..188110844-chr2:188112727..188114579,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-989P	TF binding region
RNU6-989P	CpG island

Extended variants
information (count: 582 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372278588	chr2:188108018-188108019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74538264	chr2:188108040-188108041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577240267	chr2:188108041-188108042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578079076	chr2:188108056-188108057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545708224	chr2:188108098-188108099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535149877	chr2:188108105-188108106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59832815	chr2:188108117-188108118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574924414	chr2:188108129-188108130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542937608	chr2:188108168-188108169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554799929	chr2:188108179-188108180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113163543	chr2:188108180-188108181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568083005	chr2:188108493-188108494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528932572	chr2:188108509-188108510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540987493	chr2:188108535-188108536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531131165	chr2:188108537-188108538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199629425	chr2:188108569-188108570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200732547	chr2:188108570-188108571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201927887	chr2:188108572-188108573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62172511	chr2:188108574-188108575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374604256	chr2:188108576-188108577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57672197	chr2:188108588-188108589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144248065	chr2:188108592-188108593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533000957	chr2:188108642-188108643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112733831	chr2:188108657-188108658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535110336	chr2:188108670-188108671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187982686	chr2:188108697-188108698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568569088	chr2:188108698-188108699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572732049	chr2:188108723-188108724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79005508	chr2:188108755-188108756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374914404	chr2:188108769-188108770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568914249	chr2:188108803-188108804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532954474	chr2:188108817-188108818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546387305	chr2:188108868-188108869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192604891	chr2:188108897-188108898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551277158	chr2:188108906-188108907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558702283	chr2:188108925-188108926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576668926	chr2:188108926-188108927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540725749	chr2:188108939-188108940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558977402	chr2:188108943-188108944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77766288	chr2:188109040-188109041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56235386	chr2:188109147-188109148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183604640	chr2:188109192-188109193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548960507	chr2:188109205-188109206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567693292	chr2:188109208-188109209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571051316	chr2:188109220-188109221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200064200	chr2:188109254-188109255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376360450	chr2:188109288-188109289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371111248	chr2:188109292-188109293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373058056	chr2:188109319-188109320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188542127	chr2:188109392-188109393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188108000-188108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:188108400-188110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:188110000-188111000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:188112800-188113400	Enhancers	HUVEC	blood vessel
5	chr2:188120600-188121000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:188122800-188123600	Enhancers	HUVEC	blood vessel
7	chr2:188123600-188127800	Weak transcription	HUVEC	blood vessel
8	chr2:188126200-188126400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:188126200-188126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:188126400-188127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:188126600-188127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:188127200-188128000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:188127200-188128600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:188127200-188128800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:188127400-188128600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:188127400-188129800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:188127400-188129800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:188127600-188129000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:188127600-188130600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:188127800-188128400	Enhancers	HUVEC	blood vessel
21	chr2:188127800-188128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:188127800-188129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:188128000-188129600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:188128200-188128800	Enhancers	Fetal Lung	lung
25	chr2:188128200-188129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:188128400-188130000	Flanking Active TSS	HUVEC	blood vessel
27	chr2:188128600-188128800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:188128600-188129200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:188128600-188129200	Enhancers	Fetal Kidney	kidney
30	chr2:188128600-188129400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:188128600-188129800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:188128600-188129800	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:188128600-188129800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:188128800-188129000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:188128800-188129200	Flanking Active TSS	Fetal Lung	lung
36	chr2:188128800-188129400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:188128800-188129800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:188129000-188129200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr2:188129000-188129200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:188129000-188129400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:188129000-188129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:188129000-188129800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:188129000-188129800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:188129200-188129800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:188129200-188129800	Enhancers	Fetal Lung	lung
46	chr2:188129200-188130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:188129200-188130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:188129400-188129800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:188129400-188130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:188129600-188130600	Enhancers	HUES48 Cell Line	embryonic stem cell

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