Variant report

Variant	nsv872876
Chromosome Location	chr1:194676971-194910364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1049)
CpG islands
(count:122)
Chromatin interactive
region (count:112)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:194823663-194823984	K562	blood:	n/a	n/a
2	ARID3A	chr1:194842516-194842831	K562	blood:	n/a	n/a
3	ARID3A	chr1:194819794-194819886	K562	blood:	n/a	n/a
4	ARID3A	chr1:194839283-194839285	K562	blood:	n/a	n/a
5	ARID3A	chr1:194701547-194701671	K562	blood:	n/a	n/a
6	ARID3A	chr1:194829614-194830491	K562	blood:	n/a	n/a
7	ARID3A	chr1:194828790-194829121	K562	blood:	n/a	n/a
8	ARID3A	chr1:194831433-194831595	K562	blood:	n/a	n/a
9	ATF1	chr1:194872673-194872955	K562	blood:	n/a	n/a
10	ATF1	chr1:194869527-194869541	K562	blood:	n/a	n/a
11	ATF1	chr1:194900519-194900719	K562	blood:	n/a	n/a
12	ATF1	chr1:194841972-194841974	K562	blood:	n/a	n/a
13	ATF1	chr1:194888195-194888777	K562	blood:	n/a	n/a
14	ATF1	chr1:194878498-194878553	K562	blood:	n/a	n/a
15	ATF1	chr1:194799503-194799511	K562	blood:	n/a	n/a
16	ATF1	chr1:194801183-194801389	K562	blood:	n/a	n/a
17	ATF1	chr1:194854272-194854396	K562	blood:	n/a	n/a
18	ATF1	chr1:194842202-194842859	K562	blood:	n/a	n/a
19	ATF1	chr1:194717188-194717242	K562	blood:	n/a	n/a
20	ATF2	chr1:194765001-194765435	GM12878	blood:	n/a	n/a
21	ATF2	chr1:194799350-194799932	GM12878	blood:	n/a	n/a
22	ATF2	chr1:194799428-194799830	GM12878	blood:	n/a	n/a
23	ATF3	chr1:194842480-194842881	HCT-116	colon:	n/a	n/a
24	ATF3	chr1:194842509-194842860	HCT-116	colon:	n/a	n/a
25	ATF3	chr1:194842420-194842851	K562	blood:	n/a	n/a
26	BACH1	chr1:194828928-194829127	K562	blood:	n/a	n/a
27	BATF	chr1:194765084-194765395	GM12878	blood:	n/a	chr1:194765234-194765245 chr1:194765266-194765277
28	BCLAF1	chr1:194828925-194830232	K562	blood:	n/a	n/a
29	BHLHE40	chr1:194680352-194680402	K562	blood:	n/a	n/a
30	BHLHE40	chr1:194765128-194765404	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:194799496-194799924	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:194827856-194828137	K562	blood:	n/a	n/a
33	BRCA1	chr1:194710949-194711136	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr1:194842530-194842919	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr1:194831199-194831717	K562	blood:	n/a	n/a
36	CBX3	chr1:194831104-194831698	K562	blood:	n/a	n/a
37	CBX3	chr1:194827886-194829258	K562	blood:	n/a	n/a
38	CBX3	chr1:194842486-194842764	K562	blood:	n/a	n/a
39	CCNT2	chr1:194827979-194828453	K562	blood:	n/a	n/a
40	CEBPB	chr1:194842420-194842844	K562	blood:	n/a	n/a
41	CEBPB	chr1:194842515-194842732	K562	blood:	n/a	n/a
42	CEBPB	chr1:194782222-194782645	Hela-S3	cervix:	n/a	chr1:194782619-194782630 chr1:194782401-194782412 chr1:194782403-194782412 chr1:194782621-194782630 chr1:194782402-194782413 chr1:194782403-194782412 chr1:194782403-194782412 chr1:194782401-194782414 chr1:194782403-194782412 chr1:194782401-194782414 chr1:194782621-194782630 chr1:194782401-194782414 chr1:194782619-194782630 chr1:194782401-194782412 chr1:194782621-194782630 chr1:194782621-194782630
43	CEBPB	chr1:194756197-194756493	K562	blood:	n/a	n/a
44	CEBPB	chr1:194757384-194757689	HepG2	liver:	n/a	chr1:194757539-194757550
45	CEBPB	chr1:194900299-194900717	ECC-1	luminal epithelium:	n/a	chr1:194900478-194900489
46	CEBPB	chr1:194900298-194900959	HepG2	liver:	n/a	chr1:194900478-194900489
47	CEBPB	chr1:194872820-194873140	K562	blood:	n/a	chr1:194872974-194872985 chr1:194872976-194872985 chr1:194872974-194872987 chr1:194872976-194872985 chr1:194872976-194872985 chr1:194872974-194872987 chr1:194872976-194872985 chr1:194872974-194872987 chr1:194872975-194872986
48	CEBPB	chr1:194720957-194721250	K562	blood:	n/a	chr1:194721075-194721086 chr1:194721076-194721087 chr1:194721075-194721088 chr1:194721075-194721088 chr1:194721075-194721086
49	CEBPB	chr1:194842457-194842850	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:194724254-194724528	HepG2	liver:	n/a	chr1:194724334-194724347 chr1:194724386-194724397

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:194828299-194828349	HMEC	breast:	n/a
2	chr1:194828299-194828349	ovcar-3	ovarian:	n/a
3	chr1:194828448-194828498	Hepatocyte	liver:	n/a
4	chr1:194828448-194828498	SK-N-MC	brain:	n/a
5	chr1:194828299-194828349	ECC-1	luminal epithelium:	n/a
6	chr1:194828299-194828349	GM19239	blood:	n/a
7	chr1:194828448-194828498	Caco-2	colon:	n/a
8	chr1:194828299-194828349	HNPCEpiC	eye:	n/a
9	chr1:194828299-194828349	H1-hESC	embryonic stem cell:	embryo
10	chr1:194828448-194828498	AG04449	skin:	fetal
11	chr1:194828448-194828498	HEEpiC	esophagus:	n/a
12	chr1:194828448-194828498	ECC-1	luminal epithelium:	n/a
13	chr1:194828299-194828349	AG10803	skin:	n/a
14	chr1:194828448-194828498	SAEC	small airway:	n/a
15	chr1:194828299-194828349	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:194828299-194828349	HAEpiC	amniotic membrane:	n/a
17	chr1:194828299-194828349	HEK293	kidney:	embryo
18	chr1:194828299-194828349	PFSK-1	brain:	n/a
19	chr1:194828448-194828498	BE2_C	brain:	n/a
20	chr1:194828448-194828498	NB4	blood:	n/a
21	chr1:194828448-194828498	U87	brain:	n/a
22	chr1:194828448-194828498	LNCaP	prostate:	n/a
23	chr1:194828299-194828349	RPTEC	kidney:	n/a
24	chr1:194828299-194828349	AG04450	lung:	fetal
25	chr1:194828448-194828498	ProgFib	skin:	n/a
26	chr1:194828448-194828498	A549	lung:	n/a
27	chr1:194828448-194828498	NT2-D1	testis:	n/a
28	chr1:194828299-194828349	AG09319	gingival:	n/a
29	chr1:194828448-194828498	GM12892	blood:	n/a
30	chr1:194828448-194828498	RPTEC	kidney:	n/a
31	chr1:194828448-194828498	GM06990	blood:	n/a
32	chr1:194828448-194828498	HRE	kidney:	n/a
33	chr1:194828299-194828349	MCF10A-Er-Src	breast:	n/a
34	chr1:194828299-194828349	HRE	kidney:	n/a
35	chr1:194828299-194828349	CMK	blood:	n/a
36	chr1:194828448-194828498	HUVEC	blood vessel:	n/a
37	chr1:194828448-194828498	HCPEpiC	choroid plexus:	n/a
38	chr1:194828299-194828349	LNCaP	prostate:	n/a
39	chr1:194828448-194828498	NH-A	brain:	n/a
40	chr1:194828448-194828498	H1-hESC	embryonic stem cell:	embryo
41	chr1:194828448-194828498	GM12878	blood:	n/a
42	chr1:194828448-194828498	HRPEpiC	eye:	n/a
43	chr1:194828299-194828349	Hepatocyte	liver:	n/a
44	chr1:194828299-194828349	BE2_C	brain:	n/a
45	chr1:194828448-194828498	K562	blood:	n/a
46	chr1:194828299-194828349	HEEpiC	esophagus:	n/a
47	chr1:194828448-194828498	AG10803	skin:	n/a
48	chr1:194828299-194828349	A549	lung:	n/a
49	chr1:194828448-194828498	CMK	blood:	n/a
50	chr1:194828448-194828498	NHBE	bronchial:	n/a

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
2	chr1:194738666..194741262-chr1:194743918..194745585,2	K562	blood:
3	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
4	chr1:194761910..194763801-chr1:194771015..194773565,2	K562	blood:
5	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
6	chr1:194758845..194760365-chr13:92006262..92008831,2	K562	blood:
7	chr1:194738666..194741262-chr1:194743918..194745585,2	K562	blood:
8	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
9	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
10	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
11	chr1:194732100..194734092-chr1:194744925..194747815,2	K562	blood:
12	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
13	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
14	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
15	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
16	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
17	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
18	chr1:194693321..194695050-chr1:194697665..194700000,2	K562	blood:
19	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
20	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
21	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
22	chr1:194722558..194724150-chr1:194725621..194727394,2	K562	blood:
23	chr1:194679059..194680742-chr1:194682290..194685138,2	K562	blood:
24	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
25	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
26	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
27	chr1:194146413..194149000-chr1:194719547..194721730,2	K562	blood:
28	chr1:194693321..194695050-chr1:194697665..194700000,2	K562	blood:
29	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
30	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
31	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
32	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
33	chr1:194729999..194731616-chr1:194739799..194741340,2	K562	blood:
34	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
35	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
36	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
37	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
38	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
39	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
40	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
41	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
42	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
43	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
44	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
45	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
46	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
47	chr1:194688412..194690986-chr1:194719198..194722063,2	K562	blood:
48	chr1:194756457..194758169-chr1:194762213..194765024,2	K562	blood:
49	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
50	chr1:194681302..194685188-chr1:194688470..194690417,3	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000228167	TF binding region
ENSG00000228167	CpG island
ENSG00000163636	chromatin interactions
ENSG00000023572	chromatin interactions

Extended variants
information (count: 4596 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4596 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12026719	chr1:194676971-194676972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77882391	chr1:194676975-194676976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146989508	chr1:194677008-194677009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74803552	chr1:194677019-194677020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374271947	chr1:194677022-194677023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552947782	chr1:194677136-194677137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574897775	chr1:194677154-194677155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542237923	chr1:194677173-194677174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555542838	chr1:194677186-194677187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199860898	chr1:194677201-194677202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563822442	chr1:194677217-194677218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531005465	chr1:194677233-194677234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546115725	chr1:194677246-194677247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544254290	chr1:194677265-194677266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564719032	chr1:194677280-194677281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528651278	chr1:194677303-194677304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377319485	chr1:194677314-194677315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11581126	chr1:194677323-194677324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562033227	chr1:194677352-194677353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529687701	chr1:194677353-194677354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138139764	chr1:194677413-194677414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111325942	chr1:194677444-194677445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558099377	chr1:194677457-194677458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370532513	chr1:194677477-194677478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551956452	chr1:194677536-194677537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143611982	chr1:194677563-194677564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560853165	chr1:194677572-194677573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182642923	chr1:194677588-194677589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553347202	chr1:194677597-194677598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574784376	chr1:194677647-194677648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535880482	chr1:194677648-194677649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533095011	chr1:194677760-194677761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376246614	chr1:194677780-194677781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200755285	chr1:194677812-194677813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12067494	chr1:194677856-194677857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575675942	chr1:194677885-194677886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370043277	chr1:194677890-194677891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564383165	chr1:194677908-194677909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545150193	chr1:194677963-194677964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377273818	chr1:194677979-194677980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540467544	chr1:194677997-194677998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376603953	chr1:194678026-194678027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76478360	chr1:194678059-194678060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148636879	chr1:194678097-194678098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529524925	chr1:194678161-194678162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550824883	chr1:194678195-194678196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562965852	chr1:194678211-194678212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377546627	chr1:194678220-194678221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530377139	chr1:194678230-194678231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552260338	chr1:194678243-194678244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194675000-194677400	Weak transcription	Fetal Lung	lung
2	chr1:194675000-194678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:194678600-194679000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:194678600-194679600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:194680200-194680600	Enhancers	Left Ventricle	heart
6	chr1:194698600-194699000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:194699800-194700200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:194699800-194700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:194703800-194705000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:194704000-194704800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:194704000-194705200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:194704000-194705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:194704200-194705000	Enhancers	Ovary	ovary
14	chr1:194704600-194705000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:194704600-194705000	Enhancers	Brain Germinal Matrix	brain
16	chr1:194704600-194705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:194704800-194705200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:194704800-194705200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:194718200-194721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:194724800-194725000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:194725000-194725200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:194725200-194725400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:194737800-194738200	Enhancers	Ovary	ovary
24	chr1:194741600-194762200	Weak transcription	K562	blood
25	chr1:194748400-194748800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:194758400-194759400	Enhancers	Ovary	ovary
27	chr1:194762200-194763000	ZNF genes & repeats	K562	blood
28	chr1:194763000-194807600	Weak transcription	K562	blood
29	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
31	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
32	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
35	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
37	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
38	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
41	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
42	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:194807600-194807800	Strong transcription	K562	blood
45	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
46	chr1:194808000-194825600	Weak transcription	K562	blood
47	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
48	chr1:194825600-194831000	Active TSS	K562	blood
49	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
50	chr1:194826000-194829200	Weak transcription	Right Atrium	heart

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