Variant report

Variant	nsv872840
Chromosome Location	chr1:194221509-194320639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:194264954-194265127	HepG2	liver:	n/a	n/a
2	ATF1	chr1:194264272-194264437	K562	blood:	n/a	n/a
3	ATF1	chr1:194267197-194267479	K562	blood:	n/a	n/a
4	ATF2	chr1:194258660-194259165	GM12878	blood:	n/a	n/a
5	ATF2	chr1:194258580-194259085	GM12878	blood:	n/a	n/a
6	ATF2	chr1:194249054-194249438	GM12878	blood:	n/a	n/a
7	ATF3	chr1:194312059-194312295	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:194311963-194312358	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr1:194249125-194249361	GM12878	blood:	n/a	n/a
10	BATF	chr1:194258679-194259064	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:194258667-194259124	GM12878	blood:	n/a	n/a
12	BCL3	chr1:194258639-194259038	GM12878	blood:	n/a	n/a
13	BCL3	chr1:194258709-194259079	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:194258602-194259073	GM12878	blood:	n/a	n/a
15	BCLAF1	chr1:194248979-194249416	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:194258729-194258996	GM12878	blood:	n/a	n/a
17	CEBPB	chr1:194258947-194259224	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr1:194237780-194238333	IMR90	lung:	n/a	chr1:194238139-194238150
19	CEBPB	chr1:194267192-194267549	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:194237793-194238365	H1-hESC	embryonic stem cell:	n/a	chr1:194238139-194238150
21	CEBPB	chr1:194267151-194267568	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:194267190-194267539	A549	lung:	n/a	n/a
23	CEBPB	chr1:194267110-194267655	HCT-116	colon:	n/a	n/a
24	CEBPB	chr1:194267170-194267552	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:194237983-194238329	Hela-S3	cervix:	n/a	chr1:194238139-194238150
26	CEBPB	chr1:194267200-194267535	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr1:194312110-194312319	A549	lung:	n/a	n/a
28	CEBPB	chr1:194267210-194267527	K562	blood:	n/a	n/a
29	CEBPB	chr1:194273767-194273838	A549	lung:	n/a	n/a
30	CEBPB	chr1:194267158-194267586	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr1:194264833-194265042	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:194267041-194267657	HCT-116	colon:	n/a	n/a
33	CEBPB	chr1:194267201-194267460	A549	lung:	n/a	n/a
34	CEBPB	chr1:194267201-194267495	K562	blood:	n/a	n/a
35	CEBPB	chr1:194264851-194265147	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:194267220-194267531	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr1:194309672-194309782	A549	lung:	n/a	n/a
38	CEBPB	chr1:194221318-194221765	IMR90	lung:	n/a	n/a
39	CEBPB	chr1:194264750-194265141	MCF-7	breast:	n/a	n/a
40	CREB1	chr1:194312007-194312285	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr1:194264914-194265130	Lung_OC	lung:	n/a	n/a
42	CTCF	chr1:194264913-194265097	K562	blood:	n/a	n/a
43	CTCF	chr1:194311960-194312110	GM12870	blood:	n/a	n/a
44	CTCF	chr1:194264920-194265070	NHEK	skin:	n/a	n/a
45	CTCF	chr1:194249600-194249750	BE2_C	brain:	n/a	n/a
46	CTCF	chr1:194264940-194265090	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:194264840-194264990	NHLF	lung:	n/a	n/a
48	CTCF	chr1:194312040-194312190	HRE	kidney:	n/a	n/a
49	CTCF	chr1:194312113-194312269	Gliobla	brain:	n/a	n/a
50	CTCF	chr1:194264940-194265090	GM12872	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194249167..194252027-chr1:194255378..194258049,2	MCF-7	breast:
2	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:
3	chr1:193151512..193152776-chr1:194264703..194265563,3	MCF-7	breast:
4	chr1:194290793..194293350-chr1:194303671..194305841,2	K562	blood:
5	chr1:193375639..193376499-chr1:194264953..194265474,2	MCF-7	breast:
6	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:
7	chr1:194306516..194309030-chr1:194325392..194327548,2	K562	blood:
8	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
9	chr1:194286927..194289015-chr1:194296923..194299296,2	K562	blood:
10	chr1:194071422..194072384-chr1:194264231..194265518,7	MCF-7	breast:
11	chr1:194286927..194289015-chr1:194296923..194299296,2	K562	blood:
12	chr1:194259902..194262813-chr1:194263543..194265808,3	K562	blood:
13	chr1:194128967..194129865-chr1:194264643..194265551,3	MCF-7	breast:
14	chr1:194249167..194252027-chr1:194255378..194258049,2	MCF-7	breast:
15	chr1:194315164..194317998-chr1:194319254..194321893,3	K562	blood:
16	chr1:194256252..194258027-chr1:194260432..194262987,2	K562	blood:
17	chr1:194290793..194293350-chr1:194303671..194305841,2	K562	blood:
18	chr1:194315945..194318461-chr1:194337918..194339837,2	K562	blood:
19	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:
20	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
21	chr1:194237234..194239650-chr1:194241367..194244055,3	K562	blood:
22	chr1:194256252..194258027-chr1:194260432..194262987,2	K562	blood:
23	chr1:194317795..194320009-chr1:194323102..194324851,2	K562	blood:
24	chr1:194259902..194262813-chr1:194263543..194265808,3	K562	blood:
25	chr1:194308962..194311330-chr4:127715408..127718280,2	MCF-7	breast:
26	chr1:194128824..194129656-chr1:194264555..194265184,3	MCF-7	breast:
27	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:
28	chr1:194307530..194310929-chr1:194324369..194327548,3	K562	blood:
29	chr1:194237234..194239650-chr1:194241367..194244055,3	K562	blood:
30	chr1:193576702..193577442-chr1:194264619..194265502,2	MCF-7	breast:
31	chr1:194072910..194073570-chr1:194264512..194265049,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-4	chr1:194320593-194321556	NONHSAT008581
2	lnc-B3GALT2-5	chr1:194296750-194296826	NONHSAT008580
3	lnc-CDC73-4	chr1:194320009-194320481	NONHSAT008581
4	lnc-B3GALT2-5	chr1:194280749-194281292	NONHSAT008580
5	lnc-CDC73-4	chr1:194320073-194320368	XLOC_000510

No data

Variant related genes	Relation type
ENSG00000231714	TF binding region
ENSG00000231714	chromatin interactions

Extended variants
information (count: 1824 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1824 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10801289	chr1:194221509-194221510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573120614	chr1:194221535-194221536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534192923	chr1:194221562-194221563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560214510	chr1:194221585-194221586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34794470	chr1:194221600-194221601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555848647	chr1:194221613-194221614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74131447	chr1:194221687-194221688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544808288	chr1:194221713-194221714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371376629	chr1:194221718-194221719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148269318	chr1:194221750-194221751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111258838	chr1:194221787-194221788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187855673	chr1:194221807-194221808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140714767	chr1:194221811-194221812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112590812	chr1:194221812-194221813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66877222	chr1:194221840-194221841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560852952	chr1:194221860-194221861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142815067	chr1:194221895-194221896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539888452	chr1:194221973-194221974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190942106	chr1:194221981-194221982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528990315	chr1:194221986-194221987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531131255	chr1:194221991-194221992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184000157	chr1:194222014-194222015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533166348	chr1:194222015-194222016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138017002	chr1:194222055-194222056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569522356	chr1:194222117-194222118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150192414	chr1:194222121-194222122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566759548	chr1:194222155-194222156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188008613	chr1:194222209-194222210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550025553	chr1:194222253-194222254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555836569	chr1:194222297-194222298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12072567	chr1:194222305-194222306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538315924	chr1:194222317-194222318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12072608	chr1:194222344-194222345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73053002	chr1:194222366-194222367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192592960	chr1:194222434-194222435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545589659	chr1:194222445-194222446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533374795	chr1:194222514-194222515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554167116	chr1:194222518-194222519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73055004	chr1:194222528-194222529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539827630	chr1:194222541-194222542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11805534	chr1:194222616-194222617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566630536	chr1:194222626-194222627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530338810	chr1:194222653-194222654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200318541	chr1:194222654-194222655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528878379	chr1:194222664-194222665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543868151	chr1:194222680-194222681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562612343	chr1:194222761-194222762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532936765	chr1:194222791-194222792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139743670	chr1:194225009-194225010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565041112	chr1:194225056-194225057	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194221400-194222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:194222000-194222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:194225000-194226000	Enhancers	Stomach Mucosa	stomach
4	chr1:194225200-194225800	Enhancers	A549	lung
5	chr1:194232000-194233600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:194233000-194233200	ZNF genes & repeats	Thymus	Thymus
7	chr1:194233000-194233800	ZNF genes & repeats	Fetal Thymus	thymus
8	chr1:194233200-194234000	Strong transcription	Thymus	Thymus
9	chr1:194233600-194234600	Strong transcription	Primary T cells from cord blood	blood
10	chr1:194233800-194249600	Weak transcription	Fetal Thymus	thymus
11	chr1:194234000-194235600	Weak transcription	Thymus	Thymus
12	chr1:194234600-194250200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:194237800-194238600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:194237800-194238600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:194237800-194238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:194238200-194238600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:194249000-194250000	Enhancers	Primary B cells from cord blood	blood
18	chr1:194249600-194249800	Enhancers	Fetal Thymus	thymus
19	chr1:194249600-194250400	Enhancers	GM12878-XiMat	blood
20	chr1:194249800-194250200	Weak transcription	Fetal Thymus	thymus
21	chr1:194249800-194250800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:194250200-194251200	Enhancers	Primary T cells from cord blood	blood
23	chr1:194250400-194251000	Enhancers	Fetal Heart	heart
24	chr1:194250800-194251000	Enhancers	Primary B cells from cord blood	blood
25	chr1:194250800-194251800	Enhancers	Colon Smooth Muscle	Colon
26	chr1:194250800-194255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:194251200-194256800	Weak transcription	Primary T cells from cord blood	blood
28	chr1:194255000-194255200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:194255000-194255400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:194255000-194255400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:194255400-194256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:194255400-194258600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:194256400-194256600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:194256400-194257400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:194256400-194257400	Enhancers	Fetal Thymus	thymus
36	chr1:194256600-194258600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:194256800-194257000	Enhancers	Primary T cells from cord blood	blood
38	chr1:194256800-194258600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:194256800-194259000	Active TSS	Thymus	Thymus
40	chr1:194257000-194257800	Weak transcription	Primary T cells from cord blood	blood
41	chr1:194257200-194258800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:194257400-194257600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:194257400-194258000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:194257400-194258200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:194257400-194258800	Active TSS	Fetal Thymus	thymus
46	chr1:194257600-194258600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:194257800-194258000	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr1:194257800-194258000	Enhancers	Primary T cells from cord blood	blood
49	chr1:194257800-194258000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:194257800-194258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

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