Variant report

Variant	nsv961004
Chromosome Location	chr2:209375664-209393273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:209379861-209380159	K562	blood:	n/a	n/a
2	CBX3	chr2:209379802-209380235	K562	blood:	n/a	n/a
3	CEBPB	chr2:209390842-209391042	K562	blood:	n/a	chr2:209390897-209390908
4	CEBPB	chr2:209390741-209391042	IMR90	lung:	n/a	chr2:209390897-209390908
5	CEBPB	chr2:209390749-209391050	HepG2	liver:	n/a	chr2:209390897-209390908
6	CTCF	chr2:209388201-209388286	GM20000	blood:	n/a	n/a
7	CTCF	chr2:209386019-209386048	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:209390208-209390260	GM13976	blood:	n/a	n/a
9	CTCF	chr2:209377120-209377270	NHDF-neo	bronchial:	n/a	n/a
10	FOXA1	chr2:209389921-209390219	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:209389781-209390283	A549	lung:	n/a	n/a
12	JUN	chr2:209392582-209392702	K562	blood:	n/a	n/a
13	KAP1	chr2:209379843-209380159	K562	blood:	n/a	n/a
14	MAFF	chr2:209387840-209388164	HepG2	liver:	n/a	chr2:209387982-209388000
15	MAFK	chr2:209387810-209388163	HepG2	liver:	n/a	n/a
16	MAFK	chr2:209387893-209388054	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:209391964-209391969	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:209376396-209376695	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr2:209381860-209381958	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:209376220-209376765	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr2:209380927-209380953	ProgFib	skin:	n/a	n/a
22	SPI1	chr2:209386687-209386865	K562	blood:	n/a	n/a
23	SPI1	chr2:209386685-209386852	K562	blood:	n/a	n/a
24	STAT3	chr2:209379373-209379700	MCF10A-Er-Src	breast:	n/a	n/a
25	TRIM28	chr2:209379789-209380195	K562	blood:	n/a	n/a
26	ZNF143	chr2:209379902-209380170	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209373259..209376239-chr2:209378226..209380019,3	K562	blood:
2	chr2:209378473..209380625-chr2:209381842..209384609,2	K562	blood:
3	chr2:209373259..209376239-chr2:209378226..209380019,3	K562	blood:
4	chr2:209378473..209380625-chr2:209381842..209384609,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-5	chr2:209381633-209381955	NONHSAT076644

No data

Variant related genes	Relation type
ENSG00000232409	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556362445	chr2:209376640-209376641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs35279374	chr2:209376641-209376642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs397779402	chr2:209376649-209376650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191129671	chr2:209376711-209376712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374545159	chr2:209376721-209376722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541816264	chr2:209376742-209376743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112945026	chr2:209377126-209377127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187722969	chr2:209377149-209377150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371126643	chr2:209377187-209377188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369024951	chr2:209377210-209377211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs74929887	chr2:209377228-209377229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537982639	chr2:209379377-209379378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569964486	chr2:209379446-209379447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535755459	chr2:209379469-209379470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147069812	chr2:209379492-209379493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572225298	chr2:209379494-209379495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2364128	chr2:209379553-209379554	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191707286	chr2:209379554-209379555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs577705665	chr2:209379555-209379556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543009573	chr2:209379557-209379558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562947499	chr2:209379561-209379562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568118804	chr2:209379674-209379675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181580201	chr2:209379680-209379681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542931611	chr2:209379838-209379839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185286909	chr2:209379899-209379900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559663800	chr2:209379933-209379934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs190258227	chr2:209379948-209379949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62193703	chr2:209379964-209379965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138379485	chr2:209380021-209380022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200062718	chr2:209380026-209380027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369086422	chr2:209380148-209380149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7571717	chr2:209380155-209380156	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550951792	chr2:209380156-209380157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182141420	chr2:209380211-209380212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556617576	chr2:209380950-209380951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs527615332	chr2:209381636-209381637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs367854723	chr2:209381670-209381671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536621896	chr2:209381682-209381683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs189345290	chr2:209381723-209381724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572769578	chr2:209381775-209381776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538653653	chr2:209381782-209381783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs558969444	chr2:209381803-209381804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35934998	chr2:209381843-209381844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs139139042	chr2:209381851-209381852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs544815771	chr2:209381853-209381854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs555202210	chr2:209381877-209381878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs369541481	chr2:209389802-209389803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373460434	chr2:209389854-209389855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568335411	chr2:209389861-209389862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534116117	chr2:209389865-209389866	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209389800-209390400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:209390400-209390600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:209393200-209394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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