Variant report

Variant	nsv968726
Chromosome Location	chr9:92968466-92998706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:440)
CpG islands
(count:183)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:92989234-92989338	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr9:92989064-92989394	GM12878	blood:	n/a	n/a
3	BATF	chr9:92989140-92989405	GM12878	blood:	n/a	n/a
4	BCL3	chr9:92989044-92989494	A549	lung:	n/a	n/a
5	BCL3	chr9:92988991-92989508	A549	lung:	n/a	n/a
6	BHLHE40	chr9:92989171-92989351	GM12878	blood:	n/a	n/a
7	CEBPB	chr9:92980940-92981132	A549	lung:	n/a	n/a
8	CEBPB	chr9:92989382-92989579	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr9:92989233-92989362	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr9:92989080-92989230	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr9:92989538-92989604	GM10266	blood:	n/a	n/a
12	CTCF	chr9:92989060-92989210	K562	blood:	n/a	n/a
13	CTCF	chr9:92989154-92989351	GM12891	blood:	n/a	n/a
14	CTCF	chr9:92989400-92989550	GM12875	blood:	n/a	n/a
15	CTCF	chr9:92981879-92982137	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr9:92981786-92982199	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:92989100-92989250	GM12867	blood:	n/a	n/a
18	CTCF	chr9:92989360-92989510	SAEC	small airway:	n/a	n/a
19	CTCF	chr9:92989400-92989550	HFF	foreskin:	n/a	n/a
20	CTCF	chr9:92989534-92989656	GM19238	blood:	n/a	n/a
21	CTCF	chr9:92989060-92989210	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr9:92989137-92989284	GM20000	blood:	n/a	n/a
23	CTCF	chr9:92989400-92989550	RPTEC	kidney:	n/a	n/a
24	CTCF	chr9:92989141-92989360	GM12892	blood:	n/a	n/a
25	CTCF	chr9:92989400-92989550	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr9:92989060-92989210	AG09319	gingival:	n/a	n/a
27	CTCF	chr9:92989400-92989550	AG04450	lung:	n/a	n/a
28	CTCF	chr9:92985267-92985335	GM13976	blood:	n/a	n/a
29	CTCF	chr9:92981736-92982208	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:92989420-92989570	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr9:92989360-92989510	RPTEC	kidney:	n/a	n/a
32	CTCF	chr9:92989060-92989210	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr9:92989400-92989550	HAc	cerebellar:	n/a	n/a
34	CTCF	chr9:92989420-92989570	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr9:92981743-92982193	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr9:92989100-92989250	GM12864	blood:	n/a	n/a
37	CTCF	chr9:92989127-92989306	GM10248	blood:	n/a	n/a
38	CTCF	chr9:92989529-92989535	GM10266	blood:	n/a	n/a
39	CTCF	chr9:92989138-92989320	Fibrobl	skin:	n/a	n/a
40	CTCF	chr9:92989380-92989530	GM12870	blood:	n/a	n/a
41	CTCF	chr9:92981875-92982145	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:92989060-92989210	HepG2	liver:	n/a	n/a
43	CTCF	chr9:92981750-92982207	A549	lung:	n/a	n/a
44	CTCF	chr9:92989141-92989366	GM19240	blood:	n/a	n/a
45	CTCF	chr9:92989495-92989663	GM12892	blood:	n/a	n/a
46	CTCF	chr9:92989060-92989210	HMF	breast:	n/a	n/a
47	CTCF	chr9:92981797-92982271	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:92989106-92989444	A549	lung:	n/a	n/a
49	CTCF	chr9:92981919-92982089	HepG2	liver:	n/a	n/a
50	CTCF	chr9:92989060-92989210	Caco-2	colon:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:92982316-92982366	HNPCEpiC	eye:	n/a
2	chr9:92981825-92981875	HUVEC	blood vessel:	n/a
3	chr9:92981825-92981875	Caco-2	colon:	n/a
4	chr9:92982316-92982366	HRCEpiC	kidney:	n/a
5	chr9:92981825-92981875	HIPEpiC	eye:	n/a
6	chr9:92982316-92982366	SK-N-SH	brain:	n/a
7	chr9:92983726-92983776	NT2-D1	testis:	n/a
8	chr9:92981825-92981875	AG10803	skin:	n/a
9	chr9:92982316-92982366	BJ	skin:	n/a
10	chr9:92982316-92982366	HPAEpiC	pulmonary alveolar:	n/a
11	chr9:92981825-92981875	GM12878	blood:	n/a
12	chr9:92981825-92981875	K562	blood:	n/a
13	chr9:92982316-92982366	HIPEpiC	eye:	n/a
14	chr9:92981825-92981875	MCF10A-Er-Src	breast:	n/a
15	chr9:92982316-92982366	GM12892	blood:	n/a
16	chr9:92982316-92982366	AG04449	skin:	fetal
17	chr9:92982316-92982366	AoSMC	blood vessel:	n/a
18	chr9:92983726-92983776	GM12878	blood:	n/a
19	chr9:92983726-92983776	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:92982316-92982366	NHBE	bronchial:	n/a
21	chr9:92983726-92983776	MCF-7	breast:	n/a
22	chr9:92981825-92981875	HepG2	liver:	n/a
23	chr9:92982316-92982366	AG04450	lung:	fetal
24	chr9:92983726-92983776	SK-N-SH	brain:	n/a
25	chr9:92982316-92982366	HepG2	liver:	n/a
26	chr9:92982316-92982366	ECC-1	luminal epithelium:	n/a
27	chr9:92981825-92981875	SAEC	small airway:	n/a
28	chr9:92981825-92981875	A549	lung:	n/a
29	chr9:92983726-92983776	NHBE	bronchial:	n/a
30	chr9:92981825-92981875	HMEC	breast:	n/a
31	chr9:92982316-92982366	SK-N-SH_RA	brain:	n/a
32	chr9:92983726-92983776	U87	brain:	n/a
33	chr9:92981825-92981875	HEEpiC	esophagus:	n/a
34	chr9:92983726-92983776	Hela-S3	cervix:	n/a
35	chr9:92983726-92983776	GM12891	blood:	n/a
36	chr9:92981825-92981875	ProgFib	skin:	n/a
37	chr9:92982316-92982366	Hepatocyte	liver:	n/a
38	chr9:92981825-92981875	HCT-116	colon:	n/a
39	chr9:92983726-92983776	LNCaP	prostate:	n/a
40	chr9:92983726-92983776	CMK	blood:	n/a
41	chr9:92982316-92982366	Hela-S3	cervix:	n/a
42	chr9:92982316-92982366	SAEC	small airway:	n/a
43	chr9:92982316-92982366	GM06990	blood:	n/a
44	chr9:92983726-92983776	HCF	heart:	n/a
45	chr9:92981825-92981875	IMR90	lung:	fetal
46	chr9:92983726-92983776	HepG2	liver:	n/a
47	chr9:92983726-92983776	ovcar-3	ovarian:	n/a
48	chr9:92981825-92981875	LNCaP	prostate:	n/a
49	chr9:92983726-92983776	ProgFib	skin:	n/a
50	chr9:92982316-92982366	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:92989065..92989678-chr9:93404924..93405630,3	MCF-7	breast:
2	chr9:92904585..92905563-chr9:92981517..92982470,9	MCF-7	breast:
3	chr9:92906459..92907062-chr9:92981976..92982746,2	MCF-7	breast:
4	chr9:92904573..92905325-chr9:92981766..92982487,4	MCF-7	breast:
5	chr9:92905785..92906382-chr9:92981694..92982360,2	MCF-7	breast:
6	chr9:92903793..92904418-chr9:92981541..92982063,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR7E116P	TF binding region
OR7E31P	TF binding region
OR7E116P	CpG island
OR7E31P	CpG island
ENSG00000165023	chromatin interactions

Extended variants
information (count: 988 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546582101	chr9:92973735-92973736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561192289	chr9:92973757-92973758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530221469	chr9:92973763-92973764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546749483	chr9:92973767-92973768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560414532	chr9:92973769-92973770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368835493	chr9:92974264-92974265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs441190	chr9:92974265-92974266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372312879	chr9:92974284-92974285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557222826	chr9:92974288-92974289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571262032	chr9:92974294-92974295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376408257	chr9:92974302-92974303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201996057	chr9:92974317-92974318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370906044	chr9:92974319-92974320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374302525	chr9:92974326-92974327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138889576	chr9:92974354-92974355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189562970	chr9:92974376-92974377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142813959	chr9:92974378-92974379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562942779	chr9:92974396-92974397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531619787	chr9:92974422-92974423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146976316	chr9:92974448-92974449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182220690	chr9:92974452-92974453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138419813	chr9:92974453-92974454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112200614	chr9:92974456-92974457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75090130	chr9:92974494-92974495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144254638	chr9:92974573-92974574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556174445	chr9:92974577-92974578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187776343	chr9:92974620-92974621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193245634	chr9:92974631-92974632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184040455	chr9:92974661-92974662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79606704	chr9:92974679-92974680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141389777	chr9:92974688-92974689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72498545	chr9:92974714-92974715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577358855	chr9:92974735-92974736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546340544	chr9:92974737-92974738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs417945	chr9:92974761-92974762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188576067	chr9:92974805-92974806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192217701	chr9:92974817-92974818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542260219	chr9:92974841-92974842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1777001	chr9:92974884-92974885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562048798	chr9:92974936-92974937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527815533	chr9:92974975-92974976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547909578	chr9:92975006-92975007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184006488	chr9:92975009-92975010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546248436	chr9:92975016-92975017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549900008	chr9:92975028-92975029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569874076	chr9:92975031-92975032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535328520	chr9:92975050-92975051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554976071	chr9:92975093-92975094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565313032	chr9:92975115-92975116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187181627	chr9:92975155-92975156	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92974200-92975200	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:92974200-92976400	Enhancers	Primary B cells from cord blood	blood
3	chr9:92974400-92976200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr9:92975000-92975200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr9:92975200-92975600	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr9:92975200-92975600	Active TSS	Adipose Nuclei	Adipose
7	chr9:92975200-92975600	Enhancers	Fetal Muscle Trunk	muscle
8	chr9:92975200-92975600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr9:92975400-92975600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:92975600-92976000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr9:92975600-92976400	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:92976400-92981600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:92981600-92981800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:92981600-92982000	Active TSS	Duodenum Mucosa	Duodenum
15	chr9:92981600-92982000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr9:92981600-92982200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:92981600-92982200	Enhancers	Primary B cells from peripheral blood	blood
18	chr9:92981600-92982400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:92981600-92982400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:92981600-92982400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr9:92981600-92982400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr9:92981600-92982400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:92981600-92982400	Active TSS	Primary hematopoietic stem cells	blood
24	chr9:92981600-92982600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr9:92981600-92982600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:92981800-92982000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:92981800-92982000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr9:92981800-92982200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:92981800-92982200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:92981800-92982200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr9:92981800-92982200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr9:92981800-92982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:92981800-92982200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr9:92981800-92982200	Bivalent Enhancer	A549	lung
35	chr9:92981800-92982400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:92981800-92982400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:92981800-92982400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:92981800-92982400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:92982000-92982200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:92982000-92982200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr9:92982000-92982200	Bivalent Enhancer	Placenta	Placenta
42	chr9:92982000-92982200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr9:92982000-92982400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr9:92982000-92982400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr9:92982000-92982400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:92982000-92982400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:92982000-92982400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:92982200-92982400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr9:92982200-92982400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:92982200-92982400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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