Variant report

Variant	nsv968728
Chromosome Location	chr9:93494212-93532434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:297)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:93518024-93518301	GM12878	blood:	n/a	n/a
2	BATF	chr9:93525920-93526256	GM12878	blood:	n/a	n/a
3	BATF	chr9:93518120-93518393	GM12878	blood:	n/a	n/a
4	BATF	chr9:93518052-93518358	GM12878	blood:	n/a	n/a
5	BCL3	chr9:93518026-93518512	A549	lung:	n/a	n/a
6	BCL3	chr9:93518037-93518382	A549	lung:	n/a	n/a
7	BCL3	chr9:93518108-93518299	GM12878	blood:	n/a	n/a
8	BCLAF1	chr9:93518062-93518447	GM12878	blood:	n/a	n/a
9	BCLAF1	chr9:93518136-93518397	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:93518211-93518311	GM12878	blood:	n/a	n/a
11	CBX3	chr9:93502138-93502441	K562	blood:	n/a	n/a
12	CHD2	chr9:93530885-93530921	GM12878	blood:	n/a	n/a
13	CTCF	chr9:93518150-93518357	K562	blood:	n/a	n/a
14	CTCF	chr9:93518121-93518336	GM12891	blood:	n/a	n/a
15	CTCF	chr9:93518142-93518336	A549	lung:	n/a	n/a
16	CTCF	chr9:93518160-93518310	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr9:93518160-93518310	HCT-116	colon:	n/a	n/a
18	CTCF	chr9:93496185-93496239	GM20000	blood:	n/a	n/a
19	CTCF	chr9:93518120-93518270	GM12868	blood:	n/a	n/a
20	CTCF	chr9:93518108-93518378	GM13977	blood:	n/a	n/a
21	CTCF	chr9:93517833-93517908	GM12892	blood:	n/a	n/a
22	CTCF	chr9:93518160-93518310	GM12869	blood:	n/a	n/a
23	CTCF	chr9:93518160-93518310	AG04449	skin:	n/a	n/a
24	CTCF	chr9:93518081-93518329	GM19239	blood:	n/a	n/a
25	CTCF	chr9:93517873-93517920	GM13977	blood:	n/a	n/a
26	CTCF	chr9:93518180-93518330	HFF	foreskin:	n/a	n/a
27	CTCF	chr9:93518140-93518290	NHEK	skin:	n/a	n/a
28	CTCF	chr9:93518180-93518330	HVMF	connective:	n/a	n/a
29	CTCF	chr9:93518160-93518310	GM12867	blood:	n/a	n/a
30	CTCF	chr9:93518138-93518336	NHEK	skin:	n/a	n/a
31	CTCF	chr9:93518154-93518385	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr9:93518120-93518270	GM12866	blood:	n/a	n/a
33	CTCF	chr9:93517838-93517906	GM19240	blood:	n/a	n/a
34	CTCF	chr9:93518066-93518412	HepG2	liver:	n/a	n/a
35	CTCF	chr9:93518180-93518330	HCM	heart:	n/a	n/a
36	CTCF	chr9:93518160-93518310	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:93518160-93518310	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr9:93518129-93518410	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr9:93518180-93518330	GM12872	blood:	n/a	n/a
40	CTCF	chr9:93518160-93518310	HL-60	blood:	n/a	n/a
41	CTCF	chr9:93518160-93518310	GM12873	blood:	n/a	n/a
42	CTCF	chr9:93518016-93518431	T-47D	breast:	n/a	n/a
43	CTCF	chr9:93518180-93518330	GM12865	blood:	n/a	n/a
44	CTCF	chr9:93518160-93518310	GM12866	blood:	n/a	n/a
45	CTCF	chr9:93518360-93518510	HAc	cerebellar:	n/a	n/a
46	CTCF	chr9:93518160-93518310	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr9:93518060-93518210	HRE	kidney:	n/a	n/a
48	CTCF	chr9:93518050-93518487	A549	lung:	n/a	n/a
49	CTCF	chr9:93518160-93518310	RPTEC	kidney:	n/a	n/a
50	CTCF	chr9:93518160-93518310	BJ	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:93523028-93523078	H1-hESC	embryonic stem cell:	embryo
2	chr9:93523028-93523078	HEK293	kidney:	embryo
3	chr9:93523028-93523078	HMEC	breast:	n/a
4	chr9:93523028-93523078	HPAEpiC	pulmonary alveolar:	n/a
5	chr9:93523028-93523078	AG09309	skin:	n/a
6	chr9:93523028-93523078	Caco-2	colon:	n/a
7	chr9:93523028-93523078	PFSK-1	brain:	n/a
8	chr9:93523028-93523078	HIPEpiC	eye:	n/a
9	chr9:93523028-93523078	BE2_C	brain:	n/a
10	chr9:93523028-93523078	CMK	blood:	n/a
11	chr9:93523028-93523078	AG09319	gingival:	n/a
12	chr9:93523028-93523078	MCF10A-Er-Src	breast:	n/a
13	chr9:93523028-93523078	ProgFib	skin:	n/a
14	chr9:93523028-93523078	U87	brain:	n/a
15	chr9:93523028-93523078	A549	lung:	n/a
16	chr9:93523028-93523078	GM06990	blood:	n/a
17	chr9:93523028-93523078	HUVEC	blood vessel:	n/a
18	chr9:93523028-93523078	NHDF-neo	bronchial:	n/a
19	chr9:93523028-93523078	RPTEC	kidney:	n/a
20	chr9:93523028-93523078	HEEpiC	esophagus:	n/a
21	chr9:93523028-93523078	K562	blood:	n/a
22	chr9:93523028-93523078	AoSMC	blood vessel:	n/a
23	chr9:93523028-93523078	LNCaP	prostate:	n/a
24	chr9:93523028-93523078	AG04450	lung:	fetal
25	chr9:93523028-93523078	GM19239	blood:	n/a
26	chr9:93523028-93523078	HRE	kidney:	n/a
27	chr9:93523028-93523078	Jurkat	blood:	n/a
28	chr9:93523028-93523078	GM12891	blood:	n/a
29	chr9:93523028-93523078	SKMC	muscle:	n/a
30	chr9:93523028-93523078	T-47D	breast:	n/a
31	chr9:93523028-93523078	MCF-7	breast:	n/a
32	chr9:93523028-93523078	Hepatocyte	liver:	n/a
33	chr9:93523028-93523078	GM12892	blood:	n/a
34	chr9:93523028-93523078	IMR90	lung:	fetal
35	chr9:93523028-93523078	AG10803	skin:	n/a
36	chr9:93523028-93523078	ovcar-3	ovarian:	n/a
37	chr9:93523028-93523078	HNPCEpiC	eye:	n/a
38	chr9:93523028-93523078	SK-N-MC	brain:	n/a
39	chr9:93523028-93523078	SK-N-SH_RA	brain:	n/a
40	chr9:93523028-93523078	HCM	heart:	n/a
41	chr9:93523028-93523078	HCPEpiC	choroid plexus:	n/a
42	chr9:93523028-93523078	PrEC	prostate:	n/a
43	chr9:93523028-93523078	NB4	blood:	n/a
44	chr9:93523028-93523078	HCT-116	colon:	n/a
45	chr9:93523028-93523078	HCF	heart:	n/a
46	chr9:93523028-93523078	PANC-1	pancreas:	n/a
47	chr9:93523028-93523078	NH-A	brain:	n/a
48	chr9:93523028-93523078	NT2-D1	testis:	n/a
49	chr9:93523028-93523078	ECC-1	luminal epithelium:	n/a
50	chr9:93523028-93523078	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93488890..93491318-chr9:93493066..93496177,3	MCF-7	breast:
2	chr9:93531677..93533419-chr9:93534345..93537037,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-6	chr9:93504808-93505662	NONHSAT133099

No data

Variant related genes	Relation type
OR7E108P	TF binding region
OR7E109P	TF binding region
OR7E108P	CpG island
OR7E109P	CpG island

Extended variants
information (count: 995 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:995 , 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	rs183861523	chr9:93494216-93494217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562830833	chr9:93494238-93494239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531764944	chr9:93494241-93494242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151312489	chr9:93494278-93494279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138314987	chr9:93494289-93494290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539915002	chr9:93494298-93494299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67476196	chr9:93494302-93494303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199641301	chr9:93494305-93494306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142603574	chr9:93494323-93494324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71494421	chr9:93494326-93494327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71494422	chr9:93494329-93494330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548578849	chr9:93494373-93494374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568383670	chr9:93494386-93494387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188488121	chr9:93494448-93494449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181507237	chr9:93494478-93494479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570615886	chr9:93494513-93494514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144333269	chr9:93494539-93494540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566066878	chr9:93494615-93494616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556265994	chr9:93494640-93494641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534932297	chr9:93494646-93494647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117689937	chr9:93494713-93494714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80239834	chr9:93494716-93494717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554915895	chr9:93494770-93494771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574808779	chr9:93494963-93494964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74354268	chr9:93494966-93494967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185936621	chr9:93494968-93494969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577406080	chr9:93494972-93494973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546064248	chr9:93495032-93495033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146237262	chr9:93495034-93495035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531681796	chr9:93495086-93495087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571398805	chr9:93495164-93495165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542256454	chr9:93495180-93495181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115039416	chr9:93495196-93495197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527589579	chr9:93495218-93495219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72739225	chr9:93495227-93495228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139330142	chr9:93495353-93495354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533189292	chr9:93495373-93495374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549690091	chr9:93495382-93495383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71509656	chr9:93495423-93495424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549677872	chr9:93495424-93495425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60251227	chr9:93495443-93495444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569755406	chr9:93495482-93495483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535144541	chr9:93495496-93495497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552564647	chr9:93495553-93495554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562938355	chr9:93495567-93495568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191187773	chr9:93495577-93495578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144126892	chr9:93495585-93495586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554077591	chr9:93495656-93495657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181944297	chr9:93495680-93495681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540043635	chr9:93495687-93495688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93490800-93499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:93498400-93498800	Enhancers	Brain Germinal Matrix	brain
3	chr9:93501000-93501400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:93502600-93502800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:93502800-93504000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:93503200-93503600	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:93503600-93507800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:93507800-93509000	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:93517400-93518400	Enhancers	Placenta	Placenta
10	chr9:93517600-93518200	Enhancers	HMEC	breast
11	chr9:93517600-93518600	Enhancers	Duodenum Mucosa	Duodenum
12	chr9:93518000-93518400	Enhancers	Stomach Mucosa	stomach
13	chr9:93518000-93518600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:93518000-93518600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:93518000-93518600	Enhancers	Fetal Thymus	thymus
16	chr9:93518000-93518800	Enhancers	Primary B cells from peripheral blood	blood
17	chr9:93518000-93519600	Enhancers	Fetal Intestine Small	intestine
18	chr9:93518400-93518800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:93518400-93519200	Enhancers	Fetal Intestine Large	intestine
20	chr9:93518800-93520600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:93520600-93520800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:93526200-93527200	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:93526200-93529600	Enhancers	Fetal Intestine Large	intestine
24	chr9:93526200-93529800	Enhancers	Fetal Intestine Small	intestine
25	chr9:93527200-93529400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:93529400-93529600	Enhancers	Duodenum Mucosa	Duodenum
27	chr9:93529400-93529800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:93529600-93536200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:93530400-93531200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:93530600-93538400	Enhancers	Primary B cells from peripheral blood	blood
31	chr9:93530800-93538200	Enhancers	Primary B cells from cord blood	blood
32	chr9:93531000-93531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:93531000-93534400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr9:93531200-93532200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:93531400-93531600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:93531600-93533800	Enhancers	GM12878-XiMat	blood
37	chr9:93531600-93537600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:93531800-93532000	Enhancers	Primary hematopoietic stem cells	blood
39	chr9:93531800-93533200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr9:93532000-93532600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:93532000-93532600	Enhancers	Spleen	Spleen
42	chr9:93532000-93533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:93532200-93532800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:93532200-93533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:93532200-93537400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:93532400-93538200	Enhancers	Primary neutrophils fromperipheralblood	blood

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