Variant report

Variant	nsv6584
Chromosome Location	chr9:84547871-84606452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:84594278-84594368	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:84579303-84579751	H1-hESC	embryonic stem cell:	n/a	chr9:84579615-84579626
3	CEBPB	chr9:84579449-84579744	HepG2	liver:	n/a	chr9:84579615-84579626
4	CEBPB	chr9:84579228-84579766	IMR90	lung:	n/a	chr9:84579615-84579626
5	CHD2	chr9:84594382-84594421	GM12878	blood:	n/a	n/a
6	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr9:84585020-84585170	AG09319	gingival:	n/a	n/a
8	CTCF	chr9:84585060-84585210	AG04450	lung:	n/a	n/a
9	CTCF	chr9:84585020-84585170	NHEK	skin:	n/a	n/a
10	CTCF	chr9:84603726-84603788	LNCaP	prostate:	n/a	n/a
11	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
12	CTCF	chr9:84591400-84591550	BE2_C	brain:	n/a	n/a
13	CTCF	chr9:84585000-84585150	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr9:84591459-84591492	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:84568180-84568330	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr9:84591366-84591578	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:84585180-84585330	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr9:84585076-84585102	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr9:84585020-84585170	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr9:84582860-84583010	HEK293	kidney:	n/a	n/a
22	CTCF	chr9:84585040-84585190	HepG2	liver:	n/a	n/a
23	CTCF	chr9:84585100-84585250	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr9:84591420-84591570	A549	lung:	n/a	n/a
25	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
26	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
27	CTCF	chr9:84586780-84586930	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr9:84585000-84585150	HRE	kidney:	n/a	n/a
29	CTCF	chr9:84585080-84585230	AG09309	skin:	n/a	n/a
30	CTCF	chr9:84591398-84591546	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:84584980-84585130	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr9:84584980-84585130	HEK293	kidney:	n/a	n/a
33	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:84563982-84564047	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:84585000-84585150	HMEC	breast:	n/a	n/a
36	E2F4	chr9:84588579-84588793	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr9:84567723-84567729	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr9:84576117-84576275	MCF10A-Er-Src	breast:	n/a	n/a
39	EBF1	chr9:84583025-84583279	GM12878	blood:	n/a	n/a
40	EBF1	chr9:84579769-84579994	GM12878	blood:	n/a	n/a
41	EBF1	chr9:84579795-84580076	GM12878	blood:	n/a	n/a
42	EBF1	chr9:84579665-84580303	GM12878	blood:	n/a	n/a
43	EP300	chr9:84596912-84597102	GM12878	blood:	n/a	n/a
44	EP300	chr9:84594211-84594461	GM12878	blood:	n/a	n/a
45	EP300	chr9:84594150-84594388	GM12878	blood:	n/a	n/a
46	FOS	chr9:84599848-84600184	MCF10A-Er-Src	breast:	n/a	chr9:84600010-84600019 chr9:84600011-84600022 chr9:84600010-84600017
47	FOS	chr9:84579659-84579790	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:84599848-84600181	MCF10A-Er-Src	breast:	n/a	chr9:84600010-84600019 chr9:84600011-84600022 chr9:84600010-84600017
49	FOS	chr9:84599885-84600144	MCF10A-Er-Src	breast:	n/a	chr9:84600010-84600019 chr9:84600011-84600022 chr9:84600010-84600017
50	FOS	chr9:84579769-84579778	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:84604383-84604433	AG10803	skin:	n/a
2	chr9:84604383-84604433	GM19239	blood:	n/a
3	chr9:84603063-84603113	SK-N-SH_RA	brain:	n/a
4	chr9:84603063-84603113	HRPEpiC	eye:	n/a
5	chr9:84603063-84603113	HMEC	breast:	n/a
6	chr9:84604383-84604433	SK-N-MC	brain:	n/a
7	chr9:84603063-84603113	HEK293	kidney:	embryo
8	chr9:84604383-84604433	HCF	heart:	n/a
9	chr9:84604383-84604433	MCF-7	breast:	n/a
10	chr9:84604383-84604433	GM12878	blood:	n/a
11	chr9:84603063-84603113	HEEpiC	esophagus:	n/a
12	chr9:84603063-84603113	Hepatocyte	liver:	n/a
13	chr9:84604383-84604433	HCT-116	colon:	n/a
14	chr9:84603063-84603113	Hela-S3	cervix:	n/a
15	chr9:84603063-84603113	HNPCEpiC	eye:	n/a
16	chr9:84604383-84604433	NH-A	brain:	n/a
17	chr9:84603063-84603113	HCT-116	colon:	n/a
18	chr9:84603063-84603113	H1-hESC	embryonic stem cell:	embryo
19	chr9:84604383-84604433	ProgFib	skin:	n/a
20	chr9:84604383-84604433	NHBE	bronchial:	n/a
21	chr9:84604383-84604433	H1-hESC	embryonic stem cell:	embryo
22	chr9:84603063-84603113	HL-60	blood:	n/a
23	chr9:84604383-84604433	PFSK-1	brain:	n/a
24	chr9:84603063-84603113	HIPEpiC	eye:	n/a
25	chr9:84603063-84603113	GM12892	blood:	n/a
26	chr9:84604383-84604433	HepG2	liver:	n/a
27	chr9:84604383-84604433	K562	blood:	n/a
28	chr9:84603063-84603113	HepG2	liver:	n/a
29	chr9:84603063-84603113	Jurkat	blood:	n/a
30	chr9:84604383-84604433	SK-N-SH	brain:	n/a
31	chr9:84604383-84604433	PrEC	prostate:	n/a
32	chr9:84603063-84603113	HAEpiC	amniotic membrane:	n/a
33	chr9:84603063-84603113	RPTEC	kidney:	n/a
34	chr9:84603063-84603113	NT2-D1	testis:	n/a
35	chr9:84603063-84603113	NH-A	brain:	n/a
36	chr9:84603063-84603113	Caco-2	colon:	n/a
37	chr9:84604383-84604433	A549	lung:	n/a
38	chr9:84603063-84603113	SK-N-MC	brain:	n/a
39	chr9:84603063-84603113	AG04450	lung:	fetal
40	chr9:84604383-84604433	Caco-2	colon:	n/a
41	chr9:84603063-84603113	GM12891	blood:	n/a
42	chr9:84603063-84603113	A549	lung:	n/a
43	chr9:84603063-84603113	BJ	skin:	n/a
44	chr9:84603063-84603113	AoSMC	blood vessel:	n/a
45	chr9:84604383-84604433	PANC-1	pancreas:	n/a
46	chr9:84604383-84604433	AG09319	gingival:	n/a
47	chr9:84603063-84603113	HUVEC	blood vessel:	n/a
48	chr9:84604383-84604433	T-47D	breast:	n/a
49	chr9:84604383-84604433	U87	brain:	n/a
50	chr9:84603063-84603113	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:84581823..84583506-chr9:84588522..84590887,2	MCF-7	breast:
2	chr9:84579954..84582797-chr9:84592231..84595041,2	MCF-7	breast:
3	chr9:84581823..84583506-chr9:84588522..84590887,2	MCF-7	breast:
4	chr15:56997213..56998082-chr9:84571851..84572510,2	Hela-S3	cervix:
5	chr9:84579954..84582797-chr9:84592231..84595041,2	MCF-7	breast:
6	chr9:84582181..84584645-chr9:84585725..84588134,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-1	chr9:84591523-84592004	ENSG00000267559.1
2	lnc-FAM75B-1	chr9:84561305-84561401	ENSG00000267559.1
3	lnc-FAM75B-1	chr9:84582451-84582603	ENSG00000267559.1
4	lnc-C9orf103-9	chr9:84603703-84603919	NONHSAT132690
5	lnc-FAM75B-1	chr9:84561353-84561401	ENSG00000267559.1
6	lnc-FAM75B-1	chr9:84582451-84582603	ENSG00000267559.1
7	lnc-FAM75B-1	chr9:84591523-84591721	ENSG00000267559.1
8	lnc-C9orf103-9	chr9:84604693-84605063	NONHSAT132690
9	lnc-FAM75B-1	chr9:84588856-84589162	ENSG00000267559.1
10	lnc-FAM75B-1	chr9:84588997-84589162	ENSG00000267559.1

No data

Variant related genes	Relation type
ENSG00000267559	TF binding region
SPATA31D2P	TF binding region
SPATA31D1	TF binding region
SPATA31D3	TF binding region
ENSG00000230846	TF binding region
ENSG00000267559	CpG island
SPATA31D2P	CpG island
SPATA31D1	CpG island
SPATA31D3	CpG island
ENSG00000230846	CpG island
ENSG00000237770	chromatin interactions

Extended variants
information (count: 480 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574814813	chr9:84548297-84548298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542096235	chr9:84548344-84548345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200152653	chr9:84548590-84548591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201282784	chr9:84548648-84548649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559749964	chr9:84548703-84548704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200905411	chr9:84548723-84548724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1887453	chr9:84548944-84548945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545624968	chr9:84548956-84548957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144258741	chr9:84549000-84549001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564209476	chr9:84549002-84549003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531265314	chr9:84549005-84549006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs9644989	chr9:84549026-84549027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550014200	chr9:84549028-84549029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs561835010	chr9:84549029-84549030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529241610	chr9:84549033-84549034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547707163	chr9:84549034-84549035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545232241	chr9:84570281-84570282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77420795	chr9:84570324-84570325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1855607	chr9:84570328-84570329	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190869528	chr9:84570344-84570345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150789697	chr9:84570365-84570366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139213336	chr9:84570369-84570370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529911927	chr9:84570381-84570382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78116770	chr9:84570394-84570395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149964839	chr9:84570412-84570413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566781536	chr9:84570416-84570417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11139463	chr9:84570446-84570447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141260063	chr9:84570514-84570515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112736343	chr9:84570539-84570540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571659940	chr9:84570551-84570552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539180754	chr9:84570591-84570592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183048849	chr9:84570656-84570657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376126595	chr9:84570659-84570660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188565600	chr9:84570671-84570672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536868653	chr9:84570720-84570721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554833239	chr9:84570723-84570724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs193093452	chr9:84570738-84570739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547792833	chr9:84570774-84570775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373981466	chr9:84570805-84570806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567910148	chr9:84570806-84570807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146816519	chr9:84570808-84570809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183113450	chr9:84570825-84570826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576434649	chr9:84570891-84570892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543767331	chr9:84570912-84570913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188196088	chr9:84570976-84570977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs142864954	chr9:84579016-84579017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7848039	chr9:84579018-84579019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557570627	chr9:84579019-84579020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569345833	chr9:84579041-84579042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541014348	chr9:84579087-84579088	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Medulloblastoma	21163964	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84570200-84571000	ZNF genes & repeats	Brain Hippocampus Middle	brain
2	chr9:84579000-84580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:84579400-84579800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:84585000-84585200	Enhancers	Aorta	Aorta
5	chr9:84589600-84590200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr9:84593800-84594400	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:84593800-84595000	Enhancers	Dnd41	blood
8	chr9:84594800-84596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:84595200-84596000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:84595400-84595800	Enhancers	NHDF-Ad	bronchial
11	chr9:84596000-84599600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:84596800-84597200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:84596800-84597600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:84597200-84597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:84597400-84597800	Enhancers	Primary B cells from cord blood	blood
16	chr9:84599600-84600400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:84600000-84600200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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