Variant report

Variant	nsv1002116
Chromosome Location	chr2:188119621-188142073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

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	chr2:188128072-188128355	IMR90	lung:	n/a	n/a
3	CEBPB	chr2:188128014-188128379	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:188136680-188136830	GM12864	blood:	n/a	n/a
5	CTCF	chr2:188120802-188120876	Fibrobl	skin:	n/a	n/a
6	CTCF	chr2:188136723-188136797	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:188125440-188125474	Lung_OC	lung:	n/a	n/a
8	CTCF	chr2:188136750-188136786	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr2:188136680-188136830	HMEC	breast:	n/a	n/a
10	CTCF	chr2:188136657-188136930	GM12878	blood:	n/a	n/a
11	CTCF	chr2:188132300-188132450	GM12869	blood:	n/a	n/a
12	CTCF	chr2:188125400-188125509	LNCaP	prostate:	n/a	n/a
13	CTCF	chr2:188136740-188136890	GM06990	blood:	n/a	n/a
14	CTCF	chr2:188136755-188136832	HepG2	liver:	n/a	n/a
15	CTCF	chr2:188136640-188136790	Caco-2	colon:	n/a	n/a
16	CTCF	chr2:188136720-188136870	HMEC	breast:	n/a	n/a
17	CTCF	chr2:188136660-188136810	GM12875	blood:	n/a	n/a
18	CTCF	chr2:188125483-188125545	GM10248	blood:	n/a	n/a
19	CTCF	chr2:188136727-188136805	GM12878	blood:	n/a	n/a
20	CTCF	chr2:188136640-188136790	GM12873	blood:	n/a	n/a
21	CTCF	chr2:188136620-188136770	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr2:188136700-188136850	HEEpiC	esophagus:	n/a	n/a
23	E2F4	chr2:188139370-188139418	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr2:188119679-188119976	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr2:188128942-188129586	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOS	chr2:188121389-188121471	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr2:188121416-188121522	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:188128572-188129748	HUVEC	blood vessel:	n/a	n/a
29	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
30	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
31	GATA3	chr2:188134308-188134387	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr2:188138716-188139223	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr2:188138694-188139347	SK-N-SH	brain:	n/a	n/a
34	IRF1	chr2:188130750-188130808	K562	blood:	n/a	n/a
35	JUN	chr2:188128547-188129875	HUVEC	blood vessel:	n/a	n/a
36	JUN	chr2:188130961-188131236	HepG2	liver:	n/a	chr2:188131093-188131106
37	JUND	chr2:188132956-188132990	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr2:188130938-188131228	HepG2	liver:	n/a	n/a
39	MAFF	chr2:188122458-188122465	K562	blood:	n/a	n/a
40	MAFF	chr2:188126494-188126757	HepG2	liver:	n/a	chr2:188126614-188126632
41	MAFK	chr2:188126456-188126778	HepG2	liver:	n/a	chr2:188126615-188126629 chr2:188126617-188126637
42	MAX	chr2:188128979-188129374	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr2:188128630-188128804	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr2:188129003-188129421	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr2:188129020-188129373	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFYA	chr2:188122236-188122622	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:188121460-188121561	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:188129337-188129775	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr2:188128444-188129326	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr2:188129359-188129743	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188128809-188128859	K562	blood:	n/a
2	chr2:188128809-188128859	HCPEpiC	choroid plexus:	n/a
3	chr2:188128809-188128859	Hepatocyte	liver:	n/a
4	chr2:188128809-188128859	AG09309	skin:	n/a
5	chr2:188128809-188128859	Hela-S3	cervix:	n/a
6	chr2:188128809-188128859	HRCEpiC	kidney:	n/a
7	chr2:188128809-188128859	AG04449	skin:	fetal
8	chr2:188128809-188128859	GM06990	blood:	n/a
9	chr2:188128809-188128859	U87	brain:	n/a
10	chr2:188128809-188128859	NT2-D1	testis:	n/a
11	chr2:188128809-188128859	MCF-7	breast:	n/a
12	chr2:188128809-188128859	HL-60	blood:	n/a
13	chr2:188128809-188128859	PrEC	prostate:	n/a
14	chr2:188128809-188128859	SKMC	muscle:	n/a
15	chr2:188128809-188128859	NHBE	bronchial:	n/a
16	chr2:188128809-188128859	HIPEpiC	eye:	n/a
17	chr2:188128809-188128859	AG10803	skin:	n/a
18	chr2:188128809-188128859	RPTEC	kidney:	n/a
19	chr2:188128809-188128859	SK-N-MC	brain:	n/a
20	chr2:188128809-188128859	HEEpiC	esophagus:	n/a
21	chr2:188128809-188128859	GM19239	blood:	n/a
22	chr2:188128809-188128859	AG04450	lung:	fetal
23	chr2:188128809-188128859	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:188128809-188128859	PANC-1	pancreas:	n/a
25	chr2:188128809-188128859	NHDF-neo	bronchial:	n/a
26	chr2:188128809-188128859	HMEC	breast:	n/a
27	chr2:188128809-188128859	MCF10A-Er-Src	breast:	n/a
28	chr2:188128809-188128859	HCF	heart:	n/a
29	chr2:188128809-188128859	SK-N-SH_RA	brain:	n/a
30	chr2:188128809-188128859	HNPCEpiC	eye:	n/a
31	chr2:188128809-188128859	GM12891	blood:	n/a
32	chr2:188128809-188128859	NB4	blood:	n/a
33	chr2:188128809-188128859	BE2_C	brain:	n/a
34	chr2:188128809-188128859	ProgFib	skin:	n/a
35	chr2:188128809-188128859	BJ	skin:	n/a
36	chr2:188128809-188128859	LNCaP	prostate:	n/a
37	chr2:188128809-188128859	ovcar-3	ovarian:	n/a
38	chr2:188128809-188128859	GM12878	blood:	n/a
39	chr2:188128809-188128859	HRE	kidney:	n/a
40	chr2:188128809-188128859	HUVEC	blood vessel:	n/a
41	chr2:188128809-188128859	GM12892	blood:	n/a
42	chr2:188128809-188128859	ECC-1	luminal epithelium:	n/a
43	chr2:188128809-188128859	HepG2	liver:	n/a
44	chr2:188128809-188128859	AoSMC	blood vessel:	n/a
45	chr2:188128809-188128859	AG09319	gingival:	n/a
46	chr2:188128809-188128859	T-47D	breast:	n/a
47	chr2:188128809-188128859	HEK293	kidney:	embryo
48	chr2:188128809-188128859	HCM	heart:	n/a
49	chr2:188128809-188128859	HRPEpiC	eye:	n/a
50	chr2:188128809-188128859	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:188115424..188118005-chr2:188119188..188121188,2	MCF-7	breast:
2	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:
3	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:

No data

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

Extended variants
information (count: 463 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183951742	chr2:188120642-188120643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377573897	chr2:188120665-188120666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188691270	chr2:188120674-188120675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544559008	chr2:188120699-188120700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562671395	chr2:188120706-188120707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531452851	chr2:188120708-188120709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146192169	chr2:188120710-188120711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148406448	chr2:188120748-188120749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560161609	chr2:188120799-188120800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28866036	chr2:188120801-188120802	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142660547	chr2:188120810-188120811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10183842	chr2:188120889-188120890	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567189028	chr2:188120905-188120906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535018524	chr2:188122883-188122884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553740660	chr2:188122914-188122915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147032266	chr2:188122919-188122920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558918450	chr2:188122926-188122927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112315284	chr2:188122933-188122934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190311876	chr2:188122947-188122948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182003728	chr2:188122959-188122960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55935283	chr2:188123039-188123040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373879725	chr2:188123043-188123044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185847285	chr2:188123047-188123048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13017993	chr2:188123051-188123052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182418992	chr2:188123055-188123056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370535132	chr2:188123071-188123072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376574737	chr2:188123079-188123080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71017382	chr2:188123081-188123082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367614831	chr2:188123101-188123102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537406441	chr2:188123113-188123114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370328162	chr2:188123117-188123118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368296903	chr2:188123124-188123125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372516572	chr2:188123128-188123129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551378554	chr2:188123129-188123130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377062183	chr2:188123131-188123132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374425938	chr2:188123136-188123137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368965340	chr2:188123150-188123151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12991607	chr2:188123153-188123154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13018190	chr2:188123155-188123156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12991624	chr2:188123167-188123168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13018202	chr2:188123179-188123180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571207253	chr2:188123185-188123186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13018354	chr2:188123207-188123208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564537018	chr2:188123208-188123209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576718650	chr2:188123237-188123238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149144554	chr2:188123241-188123242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559763757	chr2:188123254-188123255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530448882	chr2:188123258-188123259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185571695	chr2:188123288-188123289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143370758	chr2:188123326-188123327	Enhancers	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188120600-188121000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:188122800-188123600	Enhancers	HUVEC	blood vessel
3	chr2:188123600-188127800	Weak transcription	HUVEC	blood vessel
4	chr2:188126200-188126400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:188126200-188126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:188126400-188127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:188126600-188127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:188127200-188128000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:188127200-188128600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:188127200-188128800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:188127400-188128600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:188127400-188129800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:188127400-188129800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:188127600-188129000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:188127600-188130600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:188127800-188128400	Enhancers	HUVEC	blood vessel
17	chr2:188127800-188128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:188127800-188129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:188128000-188129600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:188128200-188128800	Enhancers	Fetal Lung	lung
21	chr2:188128200-188129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:188128400-188130000	Flanking Active TSS	HUVEC	blood vessel
23	chr2:188128600-188128800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:188128600-188129200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:188128600-188129200	Enhancers	Fetal Kidney	kidney
26	chr2:188128600-188129400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:188128600-188129800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:188128600-188129800	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:188128600-188129800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:188128800-188129000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:188128800-188129200	Flanking Active TSS	Fetal Lung	lung
32	chr2:188128800-188129400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:188128800-188129800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:188129000-188129200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:188129000-188129200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:188129000-188129400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:188129000-188129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:188129000-188129800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:188129000-188129800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:188129200-188129800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:188129200-188129800	Enhancers	Fetal Lung	lung
42	chr2:188129200-188130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:188129200-188130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:188129400-188129800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:188129400-188130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:188129600-188130600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:188129800-188130000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:188130000-188131600	Enhancers	HUVEC	blood vessel
49	chr2:188130200-188130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:188130600-188130800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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