Variant report

Variant	esv18072
Chromosome Location	chr9:97316907-97320096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:309)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:97316828-97317415	HepG2	liver:	n/a	n/a
2	ATF2	chr9:97316673-97317135	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr9:97316593-97317233	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:97316667-97316977	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:97316492-97317057	K562	blood:	n/a	n/a
6	BRCA1	chr9:97316650-97317300	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr9:97316794-97316973	HepG2	liver:	n/a	n/a
8	BRCA1	chr9:97316748-97317370	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr9:97316658-97317103	K562	blood:	n/a	n/a
10	CCNT2	chr9:97316782-97316973	K562	blood:	n/a	n/a
11	CEBPB	chr9:97316730-97317018	K562	blood:	n/a	chr9:97316884-97316895
12	CEBPB	chr9:97316700-97317276	ECC-1	luminal epithelium:	n/a	chr9:97316884-97316895
13	CEBPB	chr9:97316733-97317111	Hela-S3	cervix:	n/a	chr9:97316884-97316895
14	CEBPB	chr9:97316739-97317051	HepG2	liver:	n/a	chr9:97316884-97316895
15	CEBPB	chr9:97316689-97317077	K562	blood:	n/a	chr9:97316884-97316895
16	CEBPB	chr9:97316779-97316925	HepG2	liver:	n/a	chr9:97316884-97316895
17	CEBPB	chr9:97316653-97317274	MCF-7	breast:	n/a	chr9:97316884-97316895
18	CEBPB	chr9:97316685-97317057	K562	blood:	n/a	chr9:97316884-97316895
19	CEBPB	chr9:97316697-97317044	H1-hESC	embryonic stem cell:	n/a	chr9:97316884-97316895
20	CEBPD	chr9:97317000-97317220	HepG2	liver:	n/a	n/a
21	CEBPD	chr9:97316984-97317225	HepG2	liver:	n/a	n/a
22	CHD1	chr9:97316774-97317575	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr9:97316691-97317240	HepG2	liver:	n/a	n/a
24	CHD2	chr9:97316757-97317614	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr9:97316491-97317373	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr9:97316620-97317234	A549	lung:	n/a	n/a
27	CREB1	chr9:97316541-97317412	HepG2	liver:	n/a	n/a
28	CREB1	chr9:97316575-97317433	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr9:97316576-97317390	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr9:97316994-97317206	A549	lung:	n/a	n/a
31	CTCF	chr9:97316502-97317166	K562	blood:	n/a	n/a
32	CTCF	chr9:97316607-97317055	HepG2	liver:	n/a	n/a
33	CTCF	chr9:97316625-97316964	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr9:97316679-97316968	IMR90	lung:	n/a	n/a
35	CTCF	chr9:97316583-97316989	K562	blood:	n/a	n/a
36	CTCF	chr9:97317469-97317628	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr9:97316633-97317167	HepG2	liver:	n/a	n/a
38	CTCF	chr9:97318672-97318701	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr9:97316679-97316924	A549	lung:	n/a	n/a
40	CTCF	chr9:97316544-97317251	HCT-116	colon:	n/a	n/a
41	CTCF	chr9:97316599-97317032	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:97316506-97317480	HCT-116	colon:	n/a	n/a
43	CTCF	chr9:97316670-97316978	LNCaP	prostate:	n/a	n/a
44	CTCF	chr9:97316602-97317182	K562	blood:	n/a	n/a
45	CTCF	chr9:97316618-97316931	T-47D	breast:	n/a	n/a
46	CTCF	chr9:97316594-97317075	K562	blood:	n/a	n/a
47	CTCF	chr9:97316603-97317041	GM12878	blood:	n/a	n/a
48	CTCF	chr9:97316665-97317116	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr9:97316594-97317064	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr9:97316623-97316975	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97317179-97317229	BJ	skin:	n/a
2	chr9:97317179-97317229	HL-60	blood:	n/a
3	chr9:97317179-97317229	PANC-1	pancreas:	n/a
4	chr9:97317179-97317229	GM06990	blood:	n/a
5	chr9:97317179-97317229	HIPEpiC	eye:	n/a
6	chr9:97317179-97317229	SK-N-MC	brain:	n/a
7	chr9:97317179-97317229	GM19239	blood:	n/a
8	chr9:97317179-97317229	PrEC	prostate:	n/a
9	chr9:97317179-97317229	Hela-S3	cervix:	n/a
10	chr9:97317179-97317229	IMR90	lung:	fetal
11	chr9:97317179-97317229	HRCEpiC	kidney:	n/a
12	chr9:97317179-97317229	NHDF-neo	bronchial:	n/a
13	chr9:97317179-97317229	ovcar-3	ovarian:	n/a
14	chr9:97317179-97317229	NT2-D1	testis:	n/a
15	chr9:97317179-97317229	HUVEC	blood vessel:	n/a
16	chr9:97317179-97317229	HNPCEpiC	eye:	n/a
17	chr9:97317179-97317229	AoSMC	blood vessel:	n/a
18	chr9:97317179-97317229	Hepatocyte	liver:	n/a
19	chr9:97317179-97317229	NHBE	bronchial:	n/a
20	chr9:97317179-97317229	MCF10A-Er-Src	breast:	n/a
21	chr9:97317179-97317229	HepG2	liver:	n/a
22	chr9:97317179-97317229	ProgFib	skin:	n/a
23	chr9:97317179-97317229	T-47D	breast:	n/a
24	chr9:97317179-97317229	HPAEpiC	pulmonary alveolar:	n/a
25	chr9:97317179-97317229	Jurkat	blood:	n/a
26	chr9:97317179-97317229	CMK	blood:	n/a
27	chr9:97317179-97317229	ECC-1	luminal epithelium:	n/a
28	chr9:97317179-97317229	GM12891	blood:	n/a
29	chr9:97317179-97317229	SK-N-SH	brain:	n/a
30	chr9:97317179-97317229	A549	lung:	n/a
31	chr9:97317179-97317229	HMEC	breast:	n/a
32	chr9:97317179-97317229	NH-A	brain:	n/a
33	chr9:97317179-97317229	PFSK-1	brain:	n/a
34	chr9:97317179-97317229	HEEpiC	esophagus:	n/a
35	chr9:97317179-97317229	HCPEpiC	choroid plexus:	n/a
36	chr9:97317179-97317229	HAEpiC	amniotic membrane:	n/a
37	chr9:97317179-97317229	NB4	blood:	n/a
38	chr9:97317179-97317229	AG09309	skin:	n/a
39	chr9:97317179-97317229	SAEC	small airway:	n/a
40	chr9:97317179-97317229	HRE	kidney:	n/a
41	chr9:97317179-97317229	U87	brain:	n/a
42	chr9:97317179-97317229	LNCaP	prostate:	n/a
43	chr9:97317179-97317229	H1-hESC	embryonic stem cell:	embryo
44	chr9:97317179-97317229	AG09319	gingival:	n/a
45	chr9:97317179-97317229	GM12892	blood:	n/a
46	chr9:97317179-97317229	K562	blood:	n/a
47	chr9:97317179-97317229	BE2_C	brain:	n/a
48	chr9:97317179-97317229	AG04449	skin:	fetal
49	chr9:97317179-97317229	GM12878	blood:	n/a
50	chr9:97317179-97317229	HCT-116	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97316436..97317261-chr9:97893369..97894207,2	K562	blood:
2	chr9:97316005..97317970-chr9:97766242..97767931,2	MCF-7	breast:
3	chr9:97316754..97318987-chr9:97400777..97403144,3	MCF-7	breast:
4	chr9:97316341..97317245-chr9:97365199..97365958,5	K562	blood:
5	chr9:97316090..97317268-chr9:97365275..97366675,11	MCF-7	breast:
6	chr9:97315606..97318346-chr9:97888439..97891401,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCAT7	TF binding region
PCAT7	CpG island
ENSG00000158169	chromatin interactions
ENSG00000165140	chromatin interactions
ENSG00000148120	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560908172	chr9:97316917-97316918	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs575972643	chr9:97316949-97316950	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs10993242	chr9:97316950-97316951	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182578695	chr9:97316952-97316953	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs532272471	chr9:97316954-97316955	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs376413209	chr9:97316976-97316977	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs148295908	chr9:97317000-97317001	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs115262637	chr9:97317026-97317027	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs527852807	chr9:97317057-97317058	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs55683730	chr9:97317075-97317076	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548095358	chr9:97317084-97317085	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs567622482	chr9:97317092-97317093	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs531618434	chr9:97317093-97317094	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550189218	chr9:97317104-97317105	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs11790263	chr9:97317105-97317106	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571109044	chr9:97317108-97317109	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs141491599	chr9:97317128-97317129	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs79880345	chr9:97317130-97317131	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
19	rs73523192	chr9:97317134-97317135	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377372200	chr9:97317137-97317138	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs566295021	chr9:97317145-97317146	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs536920099	chr9:97317146-97317147	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs73653482	chr9:97317152-97317153	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139586456	chr9:97317179-97317180	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs111342757	chr9:97317184-97317185	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
26	rs535941896	chr9:97317188-97317189	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs576505994	chr9:97317209-97317210	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs10821366	chr9:97317230-97317231	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113612193	chr9:97317233-97317234	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs529860936	chr9:97317234-97317235	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs542060104	chr9:97317236-97317237	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs572719524	chr9:97317248-97317249	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs147397057	chr9:97317255-97317256	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs368205892	chr9:97317266-97317267	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs530881120	chr9:97317275-97317276	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111893186	chr9:97317284-97317285	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs571650495	chr9:97317293-97317294	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs532620143	chr9:97317332-97317333	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs540012961	chr9:97317340-97317341	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs186822009	chr9:97317357-97317358	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs115050788	chr9:97317379-97317380	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536844492	chr9:97317396-97317397	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs114101181	chr9:97317401-97317402	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs567889914	chr9:97317406-97317407	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528996645	chr9:97317410-97317411	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs191236287	chr9:97317413-97317414	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs369160744	chr9:97317418-97317419	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs10993243	chr9:97317422-97317423	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78749565	chr9:97317428-97317429	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs540696753	chr9:97317441-97317442	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97315200-97319200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr9:97315400-97318800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:97315600-97317400	Active TSS	Colonic Mucosa	Colon
4	chr9:97315600-97317600	Active TSS	Duodenum Mucosa	Duodenum
5	chr9:97315600-97317600	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr9:97315600-97319200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:97315800-97317200	Active TSS	Rectal Smooth Muscle	rectum
8	chr9:97315800-97317400	Bivalent/Poised TSS	HepG2	liver
9	chr9:97315800-97317600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr9:97316000-97317400	Active TSS	Stomach Mucosa	stomach
11	chr9:97316000-97318000	Active TSS	A549	lung
12	chr9:97316000-97318800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:97316200-97317200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:97316200-97317200	Active TSS	Gastric	stomach
15	chr9:97316200-97318600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:97316200-97318800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:97316200-97319200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:97316400-97317000	Active TSS	Hela-S3	cervix
19	chr9:97316400-97317200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:97316400-97317200	Active TSS	Liver	Liver
21	chr9:97316400-97317400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr9:97316400-97318200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:97316400-97318800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr9:97316600-97317000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:97316600-97317000	Active TSS	Osteobl	bone
26	chr9:97316600-97317200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:97316600-97317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:97316600-97317200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:97316600-97317200	Active TSS	Fetal Kidney	kidney
30	chr9:97316600-97317200	Bivalent Enhancer	Dnd41	blood
31	chr9:97316600-97317200	Active TSS	HSMM	muscle
32	chr9:97316600-97317400	Active TSS	Fetal Muscle Trunk	muscle
33	chr9:97316600-97317400	Active TSS	NHEK	skin
34	chr9:97316600-97317600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:97316600-97318600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:97316600-97318800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr9:97316600-97319000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr9:97316600-97319200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:97316800-97317000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:97316800-97317200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:97316800-97317200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr9:97316800-97317200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:97316800-97317200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr9:97316800-97317200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr9:97316800-97317200	Active TSS	Stomach Smooth Muscle	stomach
46	chr9:97316800-97317200	Active TSS	K562	blood
47	chr9:97316800-97317400	Active TSS	Pancreas	Pancrea
48	chr9:97316800-97317800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:97316800-97317800	Active TSS	Placenta	Placenta
50	chr9:97316800-97318200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links