Variant report

Variant	nsv872879
Chromosome Location	chr1:194679220-194910364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1043)
CpG islands
(count:122)
Chromatin interactive
region (count:112)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1043 , 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	chr1:194828790-194829121	K562	blood:	n/a	n/a
2	ARID3A	chr1:194701547-194701671	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	chr1:194831433-194831595	K562	blood:	n/a	n/a
6	ARID3A	chr1:194823663-194823984	K562	blood:	n/a	n/a
7	ARID3A	chr1:194842516-194842831	K562	blood:	n/a	n/a
8	ARID3A	chr1:194829614-194830491	K562	blood:	n/a	n/a
9	ATF1	chr1:194872673-194872955	K562	blood:	n/a	n/a
10	ATF1	chr1:194854272-194854396	K562	blood:	n/a	n/a
11	ATF1	chr1:194842202-194842859	K562	blood:	n/a	n/a
12	ATF1	chr1:194799503-194799511	K562	blood:	n/a	n/a
13	ATF1	chr1:194717188-194717242	K562	blood:	n/a	n/a
14	ATF1	chr1:194888195-194888777	K562	blood:	n/a	n/a
15	ATF1	chr1:194900519-194900719	K562	blood:	n/a	n/a
16	ATF1	chr1:194801183-194801389	K562	blood:	n/a	n/a
17	ATF1	chr1:194878498-194878553	K562	blood:	n/a	n/a
18	ATF1	chr1:194841972-194841974	K562	blood:	n/a	n/a
19	ATF1	chr1:194869527-194869541	K562	blood:	n/a	n/a
20	ATF2	chr1:194799350-194799932	GM12878	blood:	n/a	n/a
21	ATF2	chr1:194799428-194799830	GM12878	blood:	n/a	n/a
22	ATF2	chr1:194765001-194765435	GM12878	blood:	n/a	n/a
23	ATF3	chr1:194842420-194842851	K562	blood:	n/a	n/a
24	ATF3	chr1:194842480-194842881	HCT-116	colon:	n/a	n/a
25	ATF3	chr1:194842509-194842860	HCT-116	colon:	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	chr1:194799496-194799924	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:194827856-194828137	K562	blood:	n/a	n/a
32	BHLHE40	chr1:194765128-194765404	GM12878	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	chr1:194827886-194829258	K562	blood:	n/a	n/a
36	CBX3	chr1:194831199-194831717	K562	blood:	n/a	n/a
37	CBX3	chr1:194831104-194831698	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	chr1:194842457-194842850	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:194834762-194834858	K562	blood:	n/a	n/a
42	CEBPB	chr1:194898484-194898937	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:194787866-194788176	A549	lung:	n/a	chr1:194788012-194788023 chr1:194788011-194788024
44	CEBPB	chr1:194683156-194683864	K562	blood:	n/a	chr1:194683707-194683718 chr1:194683709-194683720
45	CEBPB	chr1:194757378-194757610	A549	lung:	n/a	chr1:194757539-194757550
46	CEBPB	chr1:194782155-194782695	HCT-116	colon:	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
47	CEBPB	chr1:194787870-194788178	HepG2	liver:	n/a	chr1:194788012-194788023 chr1:194788011-194788024
48	CEBPB	chr1:194900302-194900875	A549	lung:	n/a	chr1:194900478-194900489
49	CEBPB	chr1:194872828-194873066	IMR90	lung:	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
50	CEBPB	chr1:194888369-194888666	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:194828299-194828349	HCT-116	colon:	n/a
2	chr1:194828448-194828498	SK-N-MC	brain:	n/a
3	chr1:194828299-194828349	GM06990	blood:	n/a
4	chr1:194828299-194828349	AG09309	skin:	n/a
5	chr1:194828448-194828498	AG10803	skin:	n/a
6	chr1:194828299-194828349	GM12878	blood:	n/a
7	chr1:194828299-194828349	PFSK-1	brain:	n/a
8	chr1:194828448-194828498	MCF-7	breast:	n/a
9	chr1:194828448-194828498	ovcar-3	ovarian:	n/a
10	chr1:194828448-194828498	Jurkat	blood:	n/a
11	chr1:194828448-194828498	HCPEpiC	choroid plexus:	n/a
12	chr1:194828448-194828498	HEEpiC	esophagus:	n/a
13	chr1:194828448-194828498	Hepatocyte	liver:	n/a
14	chr1:194828299-194828349	NHDF-neo	bronchial:	n/a
15	chr1:194828448-194828498	AG04449	skin:	fetal
16	chr1:194828299-194828349	NT2-D1	testis:	n/a
17	chr1:194828448-194828498	HCM	heart:	n/a
18	chr1:194828448-194828498	CMK	blood:	n/a
19	chr1:194828299-194828349	SK-N-MC	brain:	n/a
20	chr1:194828448-194828498	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:194828299-194828349	NB4	blood:	n/a
22	chr1:194828448-194828498	HIPEpiC	eye:	n/a
23	chr1:194828448-194828498	ProgFib	skin:	n/a
24	chr1:194828299-194828349	HCM	heart:	n/a
25	chr1:194828299-194828349	Hela-S3	cervix:	n/a
26	chr1:194828448-194828498	HCF	heart:	n/a
27	chr1:194828299-194828349	AG10803	skin:	n/a
28	chr1:194828299-194828349	HEEpiC	esophagus:	n/a
29	chr1:194828448-194828498	NHBE	bronchial:	n/a
30	chr1:194828299-194828349	H1-hESC	embryonic stem cell:	embryo
31	chr1:194828299-194828349	HCPEpiC	choroid plexus:	n/a
32	chr1:194828448-194828498	AG09319	gingival:	n/a
33	chr1:194828448-194828498	HAEpiC	amniotic membrane:	n/a
34	chr1:194828299-194828349	AG04449	skin:	fetal
35	chr1:194828448-194828498	HepG2	liver:	n/a
36	chr1:194828448-194828498	RPTEC	kidney:	n/a
37	chr1:194828299-194828349	HAEpiC	amniotic membrane:	n/a
38	chr1:194828299-194828349	ProgFib	skin:	n/a
39	chr1:194828299-194828349	Jurkat	blood:	n/a
40	chr1:194828299-194828349	BE2_C	brain:	n/a
41	chr1:194828448-194828498	Caco-2	colon:	n/a
42	chr1:194828299-194828349	U87	brain:	n/a
43	chr1:194828299-194828349	A549	lung:	n/a
44	chr1:194828448-194828498	GM12891	blood:	n/a
45	chr1:194828299-194828349	PrEC	prostate:	n/a
46	chr1:194828448-194828498	HRPEpiC	eye:	n/a
47	chr1:194828299-194828349	GM12892	blood:	n/a
48	chr1:194828299-194828349	NH-A	brain:	n/a
49	chr1:194828299-194828349	HepG2	liver:	n/a
50	chr1:194828299-194828349	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
2	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
3	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
4	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
5	chr1:194758845..194760365-chr13:92006262..92008831,2	K562	blood:
6	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
7	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
8	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
9	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
10	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
11	chr1:194693321..194695050-chr1:194697665..194700000,2	K562	blood:
12	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
13	chr1:194679059..194680742-chr1:194682290..194685138,2	K562	blood:
14	chr1:194729999..194731616-chr1:194739799..194741340,2	K562	blood:
15	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
16	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
17	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
18	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
19	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
20	chr1:194679059..194680742-chr1:194682290..194685138,2	K562	blood:
21	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
22	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
23	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
24	chr1:194758841..194760344-chr13:92007287..92009017,2	K562	blood:
25	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
26	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
27	chr1:194624819..194626729-chr1:194711630..194714055,2	K562	blood:
28	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
29	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
30	chr1:194742165..194743890-chr1:194745588..194747378,2	K562	blood:
31	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
32	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
33	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
34	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
35	chr1:194722558..194724150-chr1:194725621..194727394,2	K562	blood:
36	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
37	chr1:194740229..194742934-chr1:194768540..194770092,2	K562	blood:
38	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
39	chr1:194674960..194679319-chr1:194679735..194682692,3	K562	blood:
40	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
41	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
42	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
43	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
44	chr1:194146413..194149000-chr1:194719547..194721730,2	K562	blood:
45	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
46	chr1:194688412..194690986-chr1:194719198..194722063,2	K562	blood:
47	chr1:194756457..194758169-chr1:194762213..194765024,2	K562	blood:
48	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
49	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
50	chr1:194811883..194813573-chr1:194831877..194834030,2	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: 4508 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4508 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2131386	chr1:194679220-194679221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12032771	chr1:194679230-194679231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564921896	chr1:194679277-194679278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148944726	chr1:194679302-194679303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143664883	chr1:194679409-194679410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540335779	chr1:194679424-194679425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561727309	chr1:194679436-194679437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188622574	chr1:194679467-194679468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151029117	chr1:194679494-194679495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576544958	chr1:194679504-194679505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569166089	chr1:194679509-194679510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140924331	chr1:194679532-194679533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147018946	chr1:194679546-194679547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193257390	chr1:194679585-194679586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2400383	chr1:194680212-194680213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555432958	chr1:194680215-194680216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78404940	chr1:194680256-194680257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190267557	chr1:194680260-194680261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545186917	chr1:194680265-194680266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560046212	chr1:194680273-194680274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371017137	chr1:194680289-194680290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374333810	chr1:194680305-194680306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548833539	chr1:194680345-194680346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138465272	chr1:194680350-194680351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200162663	chr1:194680357-194680358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550017737	chr1:194680419-194680420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371749265	chr1:194680426-194680427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538887909	chr1:194680446-194680447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577824500	chr1:194680481-194680482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376558711	chr1:194680506-194680507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182441312	chr1:194680534-194680535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566242087	chr1:194680582-194680583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147641842	chr1:194683227-194683228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs142229454	chr1:194683255-194683256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145983391	chr1:194683261-194683262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552070815	chr1:194683312-194683313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs571466436	chr1:194683328-194683329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544359397	chr1:194683367-194683368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12729702	chr1:194683391-194683392	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534940092	chr1:194683392-194683393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs553257281	chr1:194683403-194683404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs568474220	chr1:194683404-194683405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188364234	chr1:194683526-194683527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535475257	chr1:194683560-194683561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148238695	chr1:194683648-194683649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs575629377	chr1:194683664-194683665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546414113	chr1:194683706-194683707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs192314722	chr1:194683715-194683716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573052174	chr1:194683828-194683829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184562317	chr1:194683837-194683838	Inactive region	TF binding region	1 gene(s)	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194678600-194679600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:194680200-194680600	Enhancers	Left Ventricle	heart
3	chr1:194698600-194699000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:194699800-194700200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:194699800-194700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:194703800-194705000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:194704000-194704800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:194704000-194705200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:194704000-194705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:194704200-194705000	Enhancers	Ovary	ovary
11	chr1:194704600-194705000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:194704600-194705000	Enhancers	Brain Germinal Matrix	brain
13	chr1:194704600-194705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:194704800-194705200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:194704800-194705200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:194718200-194721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:194724800-194725000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:194725000-194725200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:194725200-194725400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:194737800-194738200	Enhancers	Ovary	ovary
21	chr1:194741600-194762200	Weak transcription	K562	blood
22	chr1:194748400-194748800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:194758400-194759400	Enhancers	Ovary	ovary
24	chr1:194762200-194763000	ZNF genes & repeats	K562	blood
25	chr1:194763000-194807600	Weak transcription	K562	blood
26	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
28	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
29	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
32	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
34	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
35	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
38	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
39	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:194807600-194807800	Strong transcription	K562	blood
42	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
43	chr1:194808000-194825600	Weak transcription	K562	blood
44	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
45	chr1:194825600-194831000	Active TSS	K562	blood
46	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
47	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
48	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:194842200-194842800	Enhancers	K562	blood
50	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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