Variant report

Variant	nsv525298
Chromosome Location	chr9:97289583-97312584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:97295254-97295834	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:97307897-97307916	A549	lung:	n/a	n/a
3	CEBPB	chr9:97295489-97295823	HepG2	liver:	n/a	n/a
4	CTCF	chr9:97301974-97302027	Medullo	brain:	n/a	n/a
5	CTCF	chr9:97301825-97302091	K562	blood:	n/a	n/a
6	CTCF	chr9:97301926-97301927	HepG2	liver:	n/a	n/a
7	CTCF	chr9:97299017-97299082	GM12892	blood:	n/a	n/a
8	CTCF	chr9:97298980-97299130	MCF-7	breast:	n/a	n/a
9	CTCF	chr9:97301900-97302050	Caco-2	colon:	n/a	n/a
10	CTCF	chr9:97299000-97299150	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr9:97299000-97299150	K562	blood:	n/a	n/a
12	CTCF	chr9:97301947-97301987	GM10248	blood:	n/a	n/a
13	CTCF	chr9:97301900-97302050	NB4	blood:	n/a	n/a
14	CTCF	chr9:97300120-97300270	HEK293	kidney:	n/a	n/a
15	CTCF	chr9:97298960-97299110	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr9:97299033-97299116	GM10266	blood:	n/a	n/a
17	CTCF	chr9:97298982-97299158	GM13977	blood:	n/a	n/a
18	CTCF	chr9:97299016-97299106	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr9:97299040-97299190	HMEC	breast:	n/a	n/a
20	CTCF	chr9:97298940-97299090	GM12870	blood:	n/a	n/a
21	CTCF	chr9:97299035-97299136	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr9:97299000-97299150	GM06990	blood:	n/a	n/a
23	CTCF	chr9:97302000-97302150	AG04450	lung:	n/a	n/a
24	CTCF	chr9:97301880-97302030	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr9:97298974-97299166	K562	blood:	n/a	n/a
26	CTCF	chr9:97299020-97299170	SAEC	small airway:	n/a	n/a
27	CTCF	chr9:97299040-97299190	A549	lung:	n/a	n/a
28	CTCF	chr9:97299020-97299170	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr9:97298980-97299130	HCM	heart:	n/a	n/a
30	CTCF	chr9:97299010-97299113	GM19238	blood:	n/a	n/a
31	CTCF	chr9:97300140-97300290	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr9:97298969-97299145	GM12878	blood:	n/a	n/a
33	CTCF	chr9:97301941-97302033	GM13977	blood:	n/a	n/a
34	CTCF	chr9:97298960-97299110	GM12874	blood:	n/a	n/a
35	CTCF	chr9:97301840-97301990	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr9:97299020-97299170	GM12866	blood:	n/a	n/a
37	CTCF	chr9:97299040-97299190	GM12874	blood:	n/a	n/a
38	CTCF	chr9:97299020-97299170	HMF	breast:	n/a	n/a
39	CTCF	chr9:97301941-97302010	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr9:97299030-97299149	GM10248	blood:	n/a	n/a
41	CTCF	chr9:97299020-97299170	GM12865	blood:	n/a	n/a
42	CTCF	chr9:97300040-97300190	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:97301920-97302070	GM12874	blood:	n/a	n/a
44	CTCF	chr9:97299000-97299150	GM12875	blood:	n/a	n/a
45	CTCF	chr9:97301819-97302052	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr9:97301860-97302010	HMEC	breast:	n/a	n/a
47	CTCF	chr9:97310699-97310746	Medullo	brain:	n/a	n/a
48	CTCF	chr9:97299007-97299110	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:97301834-97302086	HCT-116	colon:	n/a	n/a
50	CTCF	chr9:97299020-97299170	GM06990	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97309308..97311468-chr9:97313942..97316861,2	MCF-7	breast:
2	chr9:97308189..97310804-chr9:97316799..97318658,2	K562	blood:
3	chr9:97308189..97309860-chr9:97315997..97318299,2	K562	blood:
4	chr9:97308118..97310790-chr9:97312751..97314524,2	MCF-7	breast:
5	chr9:97291272..97293465-chr9:97298151..97299892,2	K562	blood:
6	chr9:97291272..97293465-chr9:97298151..97299892,2	K562	blood:
7	chr9:97311721..97313513-chr9:97315633..97318443,2	MCF-7	breast:
8	chr9:96827496..96828018-chr9:97299004..97299583,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBP2-2	chr9:97307553-97307654	NONHSAT133324
2	lnc-FBP2-2	chr9:97304188-97304269	NONHSAT133324
3	lnc-FBP2-2	chr9:97307784-97307855	NONHSAT133324

No data

Variant related genes	Relation type
PCAT7	TF binding region
ENSG00000231806	chromatin interactions

Extended variants
information (count: 1032 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs497103	chr9:97289583-97289584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149997318	chr9:97289625-97289626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567898959	chr9:97289633-97289634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535295465	chr9:97289660-97289661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556809237	chr9:97289665-97289666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371375121	chr9:97289673-97289674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142290855	chr9:97289701-97289702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200649408	chr9:97289708-97289709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537415371	chr9:97289710-97289711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558686823	chr9:97289712-97289713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375878807	chr9:97289736-97289737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs591824	chr9:97289786-97289787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs541148608	chr9:97289815-97289816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559911995	chr9:97289826-97289827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144552761	chr9:97289868-97289869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549023208	chr9:97289872-97289873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114659742	chr9:97289902-97289903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563931337	chr9:97289951-97289952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs493408	chr9:97289967-97289968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs73653476	chr9:97290013-97290014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148452752	chr9:97290099-97290100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528123802	chr9:97290100-97290101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553294288	chr9:97290128-97290129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546267873	chr9:97290219-97290220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567837753	chr9:97290289-97290290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535241139	chr9:97290298-97290299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78796793	chr9:97290314-97290315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568766170	chr9:97290355-97290356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539351525	chr9:97290368-97290369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73653477	chr9:97290376-97290377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577144043	chr9:97290388-97290389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193233800	chr9:97290440-97290441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs605323	chr9:97290466-97290467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183741603	chr9:97290517-97290518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574995584	chr9:97290537-97290538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187435565	chr9:97290540-97290541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145321237	chr9:97290561-97290562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575834875	chr9:97290620-97290621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372905355	chr9:97290623-97290624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs606207	chr9:97290657-97290658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191918061	chr9:97290669-97290670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555326348	chr9:97290674-97290675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528047506	chr9:97290703-97290704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546205067	chr9:97290749-97290750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570623748	chr9:97290764-97290765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57003784	chr9:97290784-97290785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550309387	chr9:97290909-97290910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs607160	chr9:97290913-97290914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539645863	chr9:97290930-97290931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs66632097	chr9:97290948-97290949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97278000-97295200	Weak transcription	Liver	Liver
2	chr9:97293800-97296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:97295000-97295200	Enhancers	HepG2	liver
4	chr9:97295000-97297200	Enhancers	Fetal Intestine Large	intestine
5	chr9:97295000-97297200	Enhancers	Fetal Intestine Small	intestine
6	chr9:97295200-97295400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr9:97295200-97296200	Flanking Active TSS	HepG2	liver
8	chr9:97295200-97296400	Enhancers	Liver	Liver
9	chr9:97295200-97297200	Enhancers	Fetal Kidney	kidney
10	chr9:97295400-97295800	Active TSS	Duodenum Mucosa	Duodenum
11	chr9:97295400-97295800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr9:97295400-97295800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:97295400-97296000	Enhancers	Pancreas	Pancrea
14	chr9:97295400-97296000	Enhancers	A549	lung
15	chr9:97295400-97296200	Enhancers	Stomach Mucosa	stomach
16	chr9:97295800-97296000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr9:97295800-97296000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr9:97295800-97296200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:97295800-97297400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr9:97296000-97297200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:97296000-97297200	Weak transcription	A549	lung
22	chr9:97296000-97297400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:97296000-97297400	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:97296200-97296600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:97296200-97297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:97296200-97297200	Enhancers	HepG2	liver
27	chr9:97296400-97297200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:97296400-97314200	Weak transcription	Liver	Liver
29	chr9:97296600-97296800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:97296800-97297200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:97297000-97297200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:97297000-97297400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:97297000-97297400	Enhancers	Osteobl	bone
34	chr9:97297200-97297400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:97297200-97297400	Enhancers	A549	lung
36	chr9:97297200-97300800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97297200-97301400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:97297200-97315000	Weak transcription	HepG2	liver
39	chr9:97297400-97299200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:97297400-97301600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:97301400-97302000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr9:97301600-97302600	Enhancers	Duodenum Mucosa	Duodenum
43	chr9:97301800-97302000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:97302000-97302400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr9:97302000-97304400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:97302400-97302600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:97302600-97315000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:97302800-97305800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr9:97303800-97304800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr9:97304400-97304600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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