Variant report

Variant	nsv1043704
Chromosome Location	chr9:96816552-96873018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:711)
CpG islands
(count:245)
Chromatin interactive
region (count:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:96830583-96831078	K562	blood:	n/a	n/a
2	ARID3A	chr9:96845761-96846017	K562	blood:	n/a	n/a
3	ARID3A	chr9:96842939-96842941	K562	blood:	n/a	n/a
4	ARID3A	chr9:96862904-96863149	K562	blood:	n/a	n/a
5	ARID3A	chr9:96828472-96828552	K562	blood:	n/a	chr9:96828527-96828543 chr9:96828528-96828544
6	ATF1	chr9:96872973-96873553	K562	blood:	n/a	n/a
7	ATF1	chr9:96845723-96846054	K562	blood:	n/a	n/a
8	ATF1	chr9:96830607-96830896	K562	blood:	n/a	n/a
9	BACH1	chr9:96846794-96846986	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr9:96844868-96845198	GM12878	blood:	n/a	chr9:96845054-96845065
11	BATF	chr9:96818908-96819262	GM12878	blood:	n/a	chr9:96819062-96819073 chr9:96819014-96819023
12	BATF	chr9:96843667-96844067	GM12878	blood:	n/a	n/a
13	BATF	chr9:96843752-96843991	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:96818959-96819255	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:96845744-96845961	K562	blood:	n/a	n/a
16	BRCA1	chr9:96827791-96827976	HepG2	liver:	n/a	chr9:96827874-96827881
17	CCNT2	chr9:96845685-96845927	K562	blood:	n/a	n/a
18	CCNT2	chr9:96845311-96845410	K562	blood:	n/a	n/a
19	CCNT2	chr9:96859774-96860136	K562	blood:	n/a	n/a
20	CCNT2	chr9:96830480-96830946	K562	blood:	n/a	n/a
21	CEBPB	chr9:96832734-96833019	A549	lung:	n/a	chr9:96832841-96832852
22	CEBPB	chr9:96859969-96860484	IMR90	lung:	n/a	n/a
23	CEBPB	chr9:96846505-96847048	HCT-116	colon:	n/a	n/a
24	CEBPB	chr9:96846603-96846907	HepG2	liver:	n/a	n/a
25	CEBPB	chr9:96846571-96847118	HCT-116	colon:	n/a	n/a
26	CEBPB	chr9:96865307-96865507	A549	lung:	n/a	chr9:96865427-96865444 chr9:96865428-96865441 chr9:96865429-96865440
27	CEBPB	chr9:96832731-96832989	Hela-S3	cervix:	n/a	chr9:96832841-96832852
28	CEBPB	chr9:96832692-96833019	IMR90	lung:	n/a	chr9:96832841-96832852
29	CEBPB	chr9:96846619-96846953	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr9:96865262-96865552	IMR90	lung:	n/a	chr9:96865427-96865444 chr9:96865428-96865441 chr9:96865429-96865440
31	CEBPB	chr9:96846544-96846869	K562	blood:	n/a	n/a
32	CEBPB	chr9:96858936-96858963	K562	blood:	n/a	chr9:96858939-96858950 chr9:96858937-96858950 chr9:96858937-96858950 chr9:96858937-96858950
33	CEBPB	chr9:96832780-96832980	H1-hESC	embryonic stem cell:	n/a	chr9:96832841-96832852
34	CEBPB	chr9:96865368-96865451	HepG2	liver:	n/a	chr9:96865427-96865444 chr9:96865428-96865441 chr9:96865429-96865440
35	CEBPB	chr9:96846624-96846810	K562	blood:	n/a	n/a
36	CEBPB	chr9:96846544-96846931	K562	blood:	n/a	n/a
37	CEBPB	chr9:96846546-96846938	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr9:96828810-96828967	K562	blood:	n/a	n/a
39	CEBPB	chr9:96832670-96833017	K562	blood:	n/a	chr9:96832841-96832852
40	CEBPB	chr9:96832692-96832991	HepG2	liver:	n/a	chr9:96832841-96832852
41	CEBPB	chr9:96865300-96865580	K562	blood:	n/a	chr9:96865427-96865444 chr9:96865428-96865441 chr9:96865429-96865440
42	CEBPB	chr9:96846541-96846925	IMR90	lung:	n/a	n/a
43	CEBPD	chr9:96830533-96830932	K562	blood:	n/a	n/a
44	CEBPD	chr9:96830530-96831033	K562	blood:	n/a	n/a
45	CHD2	chr9:96850202-96850205	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr9:96846655-96846874	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr9:96844320-96844470	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:96844289-96844383	K562	blood:	n/a	n/a
49	CTCF	chr9:96827100-96827250	AG10803	skin:	n/a	n/a
50	CTCF	chr9:96827860-96828010	HPF	lung:	n/a	chr9:96827906-96827915 chr9:96827904-96827920 chr9:96827908-96827918 chr9:96827905-96827926 chr9:96827903-96827921

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:96858147-96858197	H1-hESC	embryonic stem cell:	embryo
2	chr9:96858147-96858197	H1-hESC	embryonic stem cell:	embryo
3	chr9:96846674-96846724	LNCaP	prostate:	n/a
4	chr9:96846674-96846724	A549	lung:	n/a
5	chr9:96846724-96846774	A549	lung:	n/a
6	chr9:96846724-96846774	NHBE	bronchial:	n/a
7	chr9:96846674-96846724	HPAEpiC	pulmonary alveolar:	n/a
8	chr9:96846724-96846774	GM12891	blood:	n/a
9	chr9:96858147-96858197	RPTEC	kidney:	n/a
10	chr9:96858147-96858197	BE2_C	brain:	n/a
11	chr9:96846674-96846724	ProgFib	skin:	n/a
12	chr9:96872879-96872929	HCT-116	colon:	n/a
13	chr9:96846674-96846724	RPTEC	kidney:	n/a
14	chr9:96858147-96858197	AG04450	lung:	fetal
15	chr9:96872879-96872929	HUVEC	blood vessel:	n/a
16	chr9:96858147-96858197	GM12878	blood:	n/a
17	chr9:96846724-96846774	Hela-S3	cervix:	n/a
18	chr9:96846724-96846774	HIPEpiC	eye:	n/a
19	chr9:96858147-96858197	HIPEpiC	eye:	n/a
20	chr9:96858147-96858197	AG10803	skin:	n/a
21	chr9:96858147-96858197	HL-60	blood:	n/a
22	chr9:96872879-96872929	NH-A	brain:	n/a
23	chr9:96846674-96846724	HEK293	kidney:	embryo
24	chr9:96858147-96858197	SAEC	small airway:	n/a
25	chr9:96872879-96872929	HCF	heart:	n/a
26	chr9:96846724-96846774	HCF	heart:	n/a
27	chr9:96846674-96846724	AG04450	lung:	fetal
28	chr9:96872879-96872929	PANC-1	pancreas:	n/a
29	chr9:96846674-96846724	HRE	kidney:	n/a
30	chr9:96846674-96846724	HRCEpiC	kidney:	n/a
31	chr9:96846724-96846774	HNPCEpiC	eye:	n/a
32	chr9:96858147-96858197	HepG2	liver:	n/a
33	chr9:96872879-96872929	H1-hESC	embryonic stem cell:	embryo
34	chr9:96846724-96846774	CMK	blood:	n/a
35	chr9:96846674-96846724	HepG2	liver:	n/a
36	chr9:96872879-96872929	NB4	blood:	n/a
37	chr9:96858147-96858197	NH-A	brain:	n/a
38	chr9:96858147-96858197	K562	blood:	n/a
39	chr9:96846724-96846774	HRE	kidney:	n/a
40	chr9:96872879-96872929	Caco-2	colon:	n/a
41	chr9:96872879-96872929	HL-60	blood:	n/a
42	chr9:96846674-96846724	H1-hESC	embryonic stem cell:	embryo
43	chr9:96872879-96872929	AG10803	skin:	n/a
44	chr9:96858147-96858197	LNCaP	prostate:	n/a
45	chr9:96872879-96872929	HRCEpiC	kidney:	n/a
46	chr9:96846674-96846724	HCM	heart:	n/a
47	chr9:96846724-96846774	HepG2	liver:	n/a
48	chr9:96858147-96858197	Hepatocyte	liver:	n/a
49	chr9:96846724-96846774	SAEC	small airway:	n/a
50	chr9:96858147-96858197	A549	lung:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:96824401..96829621-chr9:96935642..96938972,5	K562	blood:
2	chr9:96859686..96862226-chr9:96927604..96929691,2	K562	blood:
3	chr9:96831421..96834835-chr9:96844919..96848368,4	K562	blood:
4	chr9:96871070..96874023-chr9:96892477..96895183,2	MCF-7	breast:
5	chr9:96820485..96823456-chr9:96825806..96827839,3	MCF-7	breast:
6	chr9:96866436..96868575-chr9:96873729..96876347,3	K562	blood:
7	chr9:96834146..96836743-chr9:96928298..96929880,2	MCF-7	breast:
8	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:
9	chr9:96855901..96860991-chr9:96926600..96930762,9	MCF-7	breast:
10	chr9:96857107..96860210-chr9:96870662..96873792,3	MCF-7	breast:
11	chr9:96856270..96858806-chr9:96864043..96866239,3	MCF-7	breast:
12	chr9:96831171..96832871-chr9:96960343..96963086,2	MCF-7	breast:
13	chr9:96856357..96859423-chr9:96862063..96865399,3	MCF-7	breast:
14	chr9:96790753..96794377-chr9:96825453..96830483,4	MCF-7	breast:
15	chr9:96847639..96850039-chr9:96863471..96865147,2	MCF-7	breast:
16	chr9:96832419..96834906-chr9:96937688..96939318,2	MCF-7	breast:
17	chr9:96791238..96793381-chr9:96814794..96817460,2	MCF-7	breast:
18	chr9:96864692..96867836-chr9:96868310..96870488,3	K562	blood:
19	chr9:96791853..96794356-chr9:96860367..96862558,2	MCF-7	breast:
20	chr9:96831019..96833354-chr9:96839512..96842200,2	MCF-7	breast:
21	chr9:96848883..96850819-chr9:96911987..96913565,2	MCF-7	breast:
22	chr9:96863435..96865449-chr9:96927688..96930142,2	MCF-7	breast:
23	chr9:96866936..96868703-chr9:96870555..96872203,2	K562	blood:
24	chr9:96820485..96823456-chr9:96825806..96827839,3	MCF-7	breast:
25	chr9:96829876..96832396-chr9:96910876..96912523,2	MCF-7	breast:
26	chr9:96827846..96829961-chr9:96932041..96934679,2	MCF-7	breast:
27	chr9:96846694..96848203-chr9:96862701..96864601,2	MCF-7	breast:
28	chr9:96839934..96843850-chr9:96845942..96848320,4	K562	blood:
29	chr9:96840790..96843521-chr9:96844749..96846640,3	MCF-7	breast:
30	chr9:96793114..96795953-chr9:96849084..96851331,2	K562	blood:
31	chr9:96866936..96868703-chr9:96870555..96872203,2	K562	blood:
32	chr9:96840790..96843521-chr9:96844749..96846640,3	MCF-7	breast:
33	chr9:96801741..96804913-chr9:96822695..96825395,3	MCF-7	breast:
34	chr9:96855903..96857740-chr9:96900937..96903523,2	MCF-7	breast:
35	chr9:96832650..96834562-chr9:96839054..96841006,2	K562	blood:
36	chr9:96827369..96828051-chr9:96923205..96923887,3	MCF-7	breast:
37	chr9:96858917..96860519-chr9:133389418..133391095,2	K562	blood:
38	chr9:96861323..96864485-chr9:96867388..96870622,3	K562	blood:
39	chr9:96832650..96834562-chr9:96839054..96841006,2	K562	blood:
40	chr9:96823995..96829172-chr9:96935840..96940267,7	K562	blood:
41	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:
42	chr9:96832791..96835506-chr9:96842343..96844213,2	K562	blood:
43	chr9:96871682..96874612-chr9:96882240..96883990,2	MCF-7	breast:
44	chr9:96845064..96846581-chr9:96932043..96934956,2	K562	blood:
45	chr9:96847188..96849533-chr9:96856467..96859477,3	K562	blood:
46	chr9:96792104..96794426-chr9:96846620..96848608,2	MCF-7	breast:
47	chr9:96832791..96835506-chr9:96842343..96844213,2	K562	blood:
48	chr9:96822397..96829591-chr9:96927085..96931647,12	MCF-7	breast:
49	chr9:96848027..96849533-chr9:96856014..96858976,2	K562	blood:
50	chr9:96828132..96830158-chr9:96841662..96844628,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTPDC1	hsa-miR-340-5p	chr9:96871285-96871306
2	PTPDC1	hsa-miR-21-5p	chr9:96870389-96870410

Variant related genes	Relation type
PTPDC1	TF binding region
PTPDC1	CpG island
ENSG00000199072	chromatin interactions
ENSG00000269946	chromatin interactions
ENSG00000269929	chromatin interactions
ENSG00000199165	chromatin interactions
ENSG00000158079	chromatin interactions

Extended variants
information (count: 1964 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1964 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147630755	chr9:96816617-96816618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566196251	chr9:96816622-96816623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567020727	chr9:96816643-96816644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527290293	chr9:96816660-96816661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548750917	chr9:96816663-96816664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186735028	chr9:96816667-96816668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201131028	chr9:96816701-96816702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs5899205	chr9:96816702-96816703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369276547	chr9:96816704-96816705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs59340531	chr9:96816730-96816731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140730108	chr9:96816737-96816738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192661213	chr9:96816748-96816749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184907607	chr9:96816751-96816752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554314032	chr9:96816754-96816755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188392235	chr9:96816834-96816835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536749962	chr9:96816836-96816837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554708577	chr9:96816842-96816843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs914295	chr9:96816843-96816844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs867761	chr9:96816859-96816860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150871825	chr9:96816889-96816890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569746368	chr9:96816928-96816929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544209504	chr9:96816951-96816952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562415396	chr9:96816955-96816956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538777937	chr9:96816983-96816984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs5899206	chr9:96817074-96817075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116427704	chr9:96817077-96817078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs193033863	chr9:96817109-96817110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575397593	chr9:96817134-96817135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537331416	chr9:96817142-96817143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552802566	chr9:96817144-96817145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549046756	chr9:96817325-96817326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11789837	chr9:96817369-96817370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150095172	chr9:96817411-96817412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140647630	chr9:96817421-96817422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556100142	chr9:96817461-96817462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550508933	chr9:96817470-96817471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556764422	chr9:96817535-96817536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571926478	chr9:96817560-96817561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554353723	chr9:96817566-96817567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548060529	chr9:96817589-96817590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376458217	chr9:96817651-96817652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566257224	chr9:96817689-96817690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184843683	chr9:96817690-96817691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138373061	chr9:96817715-96817716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572771122	chr9:96817731-96817732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535174051	chr9:96817754-96817755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189746517	chr9:96817806-96817807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558572308	chr9:96817811-96817812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537014048	chr9:96817821-96817822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149281743	chr9:96817844-96817845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96794200-96828000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:96795400-96823800	Weak transcription	Left Ventricle	heart
3	chr9:96798200-96822400	Weak transcription	Fetal Lung	lung
4	chr9:96800000-96818600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:96813600-96820200	Weak transcription	Fetal Stomach	stomach
6	chr9:96813600-96823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:96814200-96816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:96815000-96818800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:96816600-96817200	Enhancers	Brain Hippocampus Middle	brain
10	chr9:96816600-96817200	Enhancers	Brain Substantia Nigra	brain
11	chr9:96816800-96817200	Enhancers	Brain Angular Gyrus	brain
12	chr9:96816800-96819600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:96817000-96817200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:96817000-96817600	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:96817200-96817400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:96817200-96822400	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:96817400-96817800	Enhancers	Brain Angular Gyrus	brain
18	chr9:96817400-96818800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:96817400-96822800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:96817800-96818800	Weak transcription	Brain Angular Gyrus	brain
21	chr9:96817800-96823000	Weak transcription	Right Ventricle	heart
22	chr9:96818000-96818600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:96818000-96819400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:96818200-96818400	Flanking Active TSS	Aorta	Aorta
25	chr9:96818200-96819400	Enhancers	Stomach Mucosa	stomach
26	chr9:96818200-96819600	Enhancers	NHDF-Ad	bronchial
27	chr9:96818200-96820200	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:96818200-96823800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:96818400-96818600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:96818400-96819400	Active TSS	Aorta	Aorta
31	chr9:96818400-96819400	Enhancers	NHLF	lung
32	chr9:96818400-96823000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:96818600-96818800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:96818600-96818800	Enhancers	NH-A	brain
35	chr9:96818600-96818800	Enhancers	Osteobl	bone
36	chr9:96818600-96819000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:96818600-96819000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:96818600-96819000	Enhancers	Fetal Heart	heart
39	chr9:96818600-96819200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:96818600-96819200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:96818600-96819400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:96818600-96819400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:96818600-96819400	Enhancers	HMEC	breast
44	chr9:96818600-96819600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr9:96818600-96819800	Enhancers	HUVEC	blood vessel
46	chr9:96818800-96819000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr9:96818800-96819000	Enhancers	HepG2	liver
48	chr9:96818800-96819000	Enhancers	HSMM	muscle
49	chr9:96818800-96819200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:96818800-96819200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links