Variant report

Variant	nsv1011220
Chromosome Location	chr1:194434255-195276317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2870)
CpG islands
(count:183)
Chromatin interactive
region (count:206)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2870 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:194828790-194829121	K562	blood:	n/a	n/a
2	ARID3A	chr1:194819794-194819886	K562	blood:	n/a	n/a
3	ARID3A	chr1:194823663-194823984	K562	blood:	n/a	n/a
4	ARID3A	chr1:195198697-195198705	K562	blood:	n/a	n/a
5	ARID3A	chr1:194668067-194668506	K562	blood:	n/a	n/a
6	ARID3A	chr1:194842516-194842831	K562	blood:	n/a	n/a
7	ARID3A	chr1:194667692-194667731	K562	blood:	n/a	n/a
8	ARID3A	chr1:194829614-194830491	K562	blood:	n/a	n/a
9	ARID3A	chr1:194701547-194701671	K562	blood:	n/a	n/a
10	ARID3A	chr1:194839283-194839285	K562	blood:	n/a	n/a
11	ARID3A	chr1:194504737-194505069	K562	blood:	n/a	n/a
12	ARID3A	chr1:194831433-194831595	K562	blood:	n/a	n/a
13	ATF1	chr1:194888195-194888777	K562	blood:	n/a	n/a
14	ATF1	chr1:194854272-194854396	K562	blood:	n/a	n/a
15	ATF1	chr1:194662702-194662856	K562	blood:	n/a	n/a
16	ATF1	chr1:194801183-194801389	K562	blood:	n/a	n/a
17	ATF1	chr1:194921272-194921554	K562	blood:	n/a	n/a
18	ATF1	chr1:194717188-194717242	K562	blood:	n/a	n/a
19	ATF1	chr1:194626403-194626731	K562	blood:	n/a	n/a
20	ATF1	chr1:194627281-194627586	K562	blood:	n/a	n/a
21	ATF1	chr1:194963175-194963179	K562	blood:	n/a	n/a
22	ATF1	chr1:194900519-194900719	K562	blood:	n/a	n/a
23	ATF1	chr1:194842202-194842859	K562	blood:	n/a	n/a
24	ATF1	chr1:194872673-194872955	K562	blood:	n/a	n/a
25	ATF1	chr1:195181877-195181932	K562	blood:	n/a	n/a
26	ATF1	chr1:194869527-194869541	K562	blood:	n/a	n/a
27	ATF1	chr1:194668119-194668497	K562	blood:	n/a	n/a
28	ATF1	chr1:194799503-194799511	K562	blood:	n/a	n/a
29	ATF1	chr1:194933783-194933793	K562	blood:	n/a	n/a
30	ATF1	chr1:194945122-194945347	K562	blood:	n/a	n/a
31	ATF1	chr1:194841972-194841974	K562	blood:	n/a	n/a
32	ATF1	chr1:194878498-194878553	K562	blood:	n/a	n/a
33	ATF1	chr1:194539567-194539748	K562	blood:	n/a	n/a
34	ATF1	chr1:194979275-194979408	K562	blood:	n/a	n/a
35	ATF1	chr1:194928895-194928956	K562	blood:	n/a	n/a
36	ATF2	chr1:194799350-194799932	GM12878	blood:	n/a	n/a
37	ATF2	chr1:194765001-194765435	GM12878	blood:	n/a	n/a
38	ATF2	chr1:195164308-195165083	GM12878	blood:	n/a	n/a
39	ATF2	chr1:194799428-194799830	GM12878	blood:	n/a	n/a
40	ATF2	chr1:195164239-195165053	GM12878	blood:	n/a	n/a
41	ATF3	chr1:194842420-194842851	K562	blood:	n/a	n/a
42	ATF3	chr1:194627281-194627622	K562	blood:	n/a	n/a
43	ATF3	chr1:194842509-194842860	HCT-116	colon:	n/a	n/a
44	ATF3	chr1:194842480-194842881	HCT-116	colon:	n/a	n/a
45	BACH1	chr1:195122356-195122540	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr1:194828928-194829127	K562	blood:	n/a	n/a
47	BACH1	chr1:195122285-195122583	K562	blood:	n/a	n/a
48	BACH1	chr1:194627157-194627629	K562	blood:	n/a	chr1:194627433-194627447
49	BACH1	chr1:195250537-195250544	K562	blood:	n/a	n/a
50	BATF	chr1:194447109-194447326	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:194828448-194828498	PANC-1	pancreas:	n/a
2	chr1:194828448-194828498	HAEpiC	amniotic membrane:	n/a
3	chr1:194828448-194828498	SK-N-MC	brain:	n/a
4	chr1:194828299-194828349	U87	brain:	n/a
5	chr1:194828448-194828498	PrEC	prostate:	n/a
6	chr1:195023534-195023584	SK-N-MC	brain:	n/a
7	chr1:194828299-194828349	AG10803	skin:	n/a
8	chr1:194828448-194828498	LNCaP	prostate:	n/a
9	chr1:195023534-195023584	AG10803	skin:	n/a
10	chr1:195023534-195023584	BE2_C	brain:	n/a
11	chr1:194828448-194828498	NB4	blood:	n/a
12	chr1:194828448-194828498	H1-hESC	embryonic stem cell:	embryo
13	chr1:195023534-195023584	HRCEpiC	kidney:	n/a
14	chr1:194828299-194828349	SK-N-MC	brain:	n/a
15	chr1:195023534-195023584	HMEC	breast:	n/a
16	chr1:194828448-194828498	SK-N-SH_RA	brain:	n/a
17	chr1:194828448-194828498	HNPCEpiC	eye:	n/a
18	chr1:195023534-195023584	SK-N-SH_RA	brain:	n/a
19	chr1:194828299-194828349	SK-N-SH_RA	brain:	n/a
20	chr1:195023534-195023584	MCF10A-Er-Src	breast:	n/a
21	chr1:194828299-194828349	HCT-116	colon:	n/a
22	chr1:195023534-195023584	GM19239	blood:	n/a
23	chr1:195023534-195023584	ovcar-3	ovarian:	n/a
24	chr1:194828448-194828498	HCT-116	colon:	n/a
25	chr1:194828299-194828349	AG04449	skin:	fetal
26	chr1:195023534-195023584	BJ	skin:	n/a
27	chr1:194828448-194828498	HRE	kidney:	n/a
28	chr1:194828448-194828498	A549	lung:	n/a
29	chr1:194828448-194828498	GM19239	blood:	n/a
30	chr1:194828299-194828349	HCPEpiC	choroid plexus:	n/a
31	chr1:195023534-195023584	GM06990	blood:	n/a
32	chr1:194828299-194828349	NHBE	bronchial:	n/a
33	chr1:195023534-195023584	PrEC	prostate:	n/a
34	chr1:194828299-194828349	MCF10A-Er-Src	breast:	n/a
35	chr1:195023534-195023584	Jurkat	blood:	n/a
36	chr1:194828299-194828349	HEEpiC	esophagus:	n/a
37	chr1:194828299-194828349	Jurkat	blood:	n/a
38	chr1:194828299-194828349	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:194828448-194828498	U87	brain:	n/a
40	chr1:194828299-194828349	AG04450	lung:	fetal
41	chr1:195023534-195023584	PFSK-1	brain:	n/a
42	chr1:194828299-194828349	SKMC	muscle:	n/a
43	chr1:194828299-194828349	GM06990	blood:	n/a
44	chr1:195023534-195023584	AG09319	gingival:	n/a
45	chr1:194828448-194828498	HIPEpiC	eye:	n/a
46	chr1:195023534-195023584	GM12878	blood:	n/a
47	chr1:194828448-194828498	HL-60	blood:	n/a
48	chr1:195023534-195023584	LNCaP	prostate:	n/a
49	chr1:195023534-195023584	HEK293	kidney:	embryo
50	chr1:194828448-194828498	NHBE	bronchial:	n/a

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
2	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
3	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:
4	chr1:194756457..194758169-chr1:194762213..194765024,2	K562	blood:
5	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
6	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
7	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
8	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
9	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
10	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
11	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
12	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
13	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
14	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
15	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
16	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
17	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
18	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
19	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
20	chr1:194681302..194685188-chr1:194688470..194690417,3	K562	blood:
21	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
22	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:
23	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
24	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
25	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
26	chr1:194470680..194473383-chr1:194480491..194482592,2	K562	blood:
27	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
28	chr1:194738666..194741262-chr1:194743918..194745585,2	K562	blood:
29	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
30	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
31	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
32	chr1:194693321..194695050-chr1:194697665..194700000,2	K562	blood:
33	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
34	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
35	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
36	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
37	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
38	chr1:194647996..194650865-chr1:194651432..194653062,2	K562	blood:
39	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
40	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
41	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
42	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
43	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:
44	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
45	chr1:194681302..194685188-chr1:194688470..194690417,3	K562	blood:
46	chr1:194740229..194742934-chr1:194768540..194770092,2	K562	blood:
47	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
48	chr1:194688412..194690986-chr1:194719198..194722063,2	K562	blood:
49	chr1:194736657..194739277-chr1:194743434..194745468,2	K562	blood:
50	chr1:194761910..194763801-chr1:194771015..194773565,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-5	chr1:194748907-194749629	NONHSAT008587
2	lnc-KCNT2-5	chr1:194750316-194750373	NONHSAT008587
3	lnc-CDC73-13	chr1:194687925-194688366	NONHSAT008586

No data

Variant related genes	Relation type
ENSG00000265108	TF binding region
ENSG00000228167	TF binding region
RNU6-983P	TF binding region
ENSG00000265108	CpG island
ENSG00000228167	CpG island
RNU6-983P	CpG island
ENSG00000023572	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 8389 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:8389 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190171687	chr1:194437212-194437213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4319304	chr1:194437243-194437244	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181139178	chr1:194437284-194437285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567024257	chr1:194437291-194437292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537519216	chr1:194437364-194437365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113393825	chr1:194437432-194437433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs77488269	chr1:194437465-194437466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371736772	chr1:194437549-194437550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74964969	chr1:194437552-194437553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs137901444	chr1:194437593-194437594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569621480	chr1:194437600-194437601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144811055	chr1:194443247-194443248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377202555	chr1:194443249-194443250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559029348	chr1:194443300-194443301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577231958	chr1:194443308-194443309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541619756	chr1:194443334-194443335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560576778	chr1:194443336-194443337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139682911	chr1:194443347-194443348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574972485	chr1:194443355-194443356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190416299	chr1:194443360-194443361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142856478	chr1:194443371-194443372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146083724	chr1:194443445-194443446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549775908	chr1:194443477-194443478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193104655	chr1:194443523-194443524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140032571	chr1:194443555-194443556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185364833	chr1:194443563-194443564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189771161	chr1:194443590-194443591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142291350	chr1:194443597-194443598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202014309	chr1:194443636-194443637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543194305	chr1:194443645-194443646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548104963	chr1:194443684-194443685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151242972	chr1:194443788-194443789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139666014	chr1:194443798-194443799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149743355	chr1:194443815-194443816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34780312	chr1:194443853-194443854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557986310	chr1:194443889-194443890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570926158	chr1:194443890-194443891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534851033	chr1:194443895-194443896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553423040	chr1:194443919-194443920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547636442	chr1:194443929-194443930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12061101	chr1:194443932-194443933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111803511	chr1:194443933-194443934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141281626	chr1:194443945-194443946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543416620	chr1:194443968-194443969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185536045	chr1:194443972-194443973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61817712	chr1:194443994-194443995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113859873	chr1:194444027-194444028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146962637	chr1:194444085-194444086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529858819	chr1:194444097-194444098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547944663	chr1:194444121-194444122	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Maculopathy	22022419	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Asthma	20841430	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194437200-194437600	Active TSS	Right Atrium	heart
2	chr1:194443200-194444400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:194443200-194444400	Enhancers	Fetal Brain Male	brain
4	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:194443800-194444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:194444000-194444200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:194444400-194445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:194445800-194446600	Enhancers	Fetal Heart	heart
11	chr1:194446200-194446800	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:194446400-194447600	Enhancers	Primary B cells from cord blood	blood
13	chr1:194446600-194446800	Enhancers	Right Ventricle	heart
14	chr1:194470600-194471000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:194479800-194480200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:194480200-194484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:194482200-194482800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:194484200-194484400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:194485000-194485600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:194486400-194487400	Enhancers	Primary B cells from cord blood	blood
21	chr1:194486600-194487200	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:194487000-194487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:194487400-194488400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:194488400-194488600	Enhancers	Primary B cells from cord blood	blood
25	chr1:194490400-194490600	Enhancers	Primary B cells from cord blood	blood
26	chr1:194502400-194503400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:194503000-194503400	Enhancers	A549	lung
28	chr1:194503000-194504800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:194503000-194505000	Enhancers	HMEC	breast
30	chr1:194503200-194504600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:194503200-194504800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:194503200-194504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:194503200-194505200	Enhancers	NHEK	skin
34	chr1:194503400-194503800	Enhancers	Placenta	Placenta
35	chr1:194503600-194504600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:194503600-194504600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:194503600-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:194503800-194504000	Enhancers	Adipose Nuclei	Adipose
39	chr1:194503800-194504200	Flanking Active TSS	Placenta	Placenta
40	chr1:194503800-194504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:194504000-194504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:194504000-194504800	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:194504000-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:194504200-194504400	Active TSS	Placenta	Placenta
45	chr1:194504200-194504800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:194504200-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:194504200-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:194504400-194504600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:194504400-194504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:194504400-194504600	Flanking Active TSS	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links