Variant report

Variant	nsv825011
Chromosome Location	chr9:102684142-102686727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:102684639-102685044	K562	blood:	n/a	n/a
2	BHLHE40	chr9:102684810-102685032	K562	blood:	n/a	n/a
3	BRCA1	chr9:102684838-102684991	GM12878	blood:	n/a	n/a
4	EP300	chr9:102684742-102684942	K562	blood:	n/a	n/a
5	JUND	chr9:102684791-102685013	K562	blood:	n/a	n/a
6	MAFK	chr9:102684793-102684922	K562	blood:	n/a	n/a
7	MAX	chr9:102684696-102684991	K562	blood:	n/a	chr9:102684866-102684882
8	MYC	chr9:102684738-102684963	K562	blood:	n/a	chr9:102684866-102684882
9	POLR2A	chr9:102686411-102686449	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:102686326-102686333	K562	blood:	n/a	n/a
11	POLR2A	chr9:102684799-102684899	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:102685770-102686819	K562	blood:	n/a	n/a
13	RCOR1	chr9:102684731-102685171	K562	blood:	n/a	n/a
14	RFX5	chr9:102686666-102686681	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102685655..102688610-chr9:102689840..102691723,2	MCF-7	breast:
2	chr9:102679685..102682942-chr9:102684269..102688000,3	K562	blood:
3	chr9:102679510..102681495-chr9:102684223..102687108,2	K562	blood:
4	chr9:102681063..102683683-chr9:102683801..102687863,4	MCF-7	breast:

No data

Variant related genes	Relation type
STX17	TF binding region
ENSG00000136874	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146114492	chr9:102684152-102684153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538980335	chr9:102684279-102684280	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529377333	chr9:102684323-102684324	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377464266	chr9:102684357-102684358	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542009650	chr9:102684364-102684365	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112499993	chr9:102684419-102684420	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561885772	chr9:102684443-102684444	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574747278	chr9:102684460-102684461	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530753329	chr9:102684468-102684469	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550878436	chr9:102684501-102684502	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570806584	chr9:102684508-102684509	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532894627	chr9:102684528-102684529	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546289126	chr9:102684546-102684547	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557302414	chr9:102684643-102684644	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35066144	chr9:102684673-102684674	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535220963	chr9:102684677-102684678	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555073595	chr9:102684812-102684813	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566584065	chr9:102684866-102684867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569096006	chr9:102684881-102684882	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538093179	chr9:102684882-102684883	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112067170	chr9:102684914-102684915	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558023634	chr9:102684995-102684996	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578187924	chr9:102685001-102685002	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540578200	chr9:102685008-102685009	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553893259	chr9:102685037-102685038	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10121880	chr9:102685043-102685044	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543961670	chr9:102685104-102685105	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114091169	chr9:102685295-102685296	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563004468	chr9:102685386-102685387	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554334684	chr9:102685389-102685390	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572930993	chr9:102685395-102685396	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540451430	chr9:102685399-102685400	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530715795	chr9:102685416-102685417	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544422541	chr9:102685440-102685441	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375477271	chr9:102685451-102685452	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528443999	chr9:102685454-102685455	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138911879	chr9:102685524-102685525	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142031136	chr9:102685526-102685527	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150840127	chr9:102685550-102685551	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373331952	chr9:102685571-102685572	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180824469	chr9:102685574-102685575	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528894093	chr9:102685807-102685808	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565522553	chr9:102685812-102685813	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548661352	chr9:102685906-102685907	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568655126	chr9:102685921-102685922	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538000568	chr9:102685945-102685946	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139255217	chr9:102686067-102686068	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186749198	chr9:102686080-102686081	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534245726	chr9:102686088-102686089	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs190986024	chr9:102686163-102686164	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102684600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:102669800-102684800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:102669800-102686000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:102669800-102686200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:102669800-102687600	Weak transcription	Stomach Mucosa	stomach
6	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
7	chr9:102670000-102684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:102670000-102684400	Weak transcription	HSMMtube	muscle
9	chr9:102670000-102686000	Weak transcription	Psoas Muscle	Psoas
10	chr9:102670000-102688200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:102670400-102686000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:102670400-102688600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
14	chr9:102676400-102684600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr9:102676600-102684800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr9:102676600-102688000	Strong transcription	Primary B cells from cord blood	blood
17	chr9:102677400-102685600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:102677400-102686600	Strong transcription	Placenta	Placenta
19	chr9:102677400-102686600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr9:102677600-102684800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:102677600-102685200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:102677600-102685800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:102677600-102686000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr9:102677600-102686400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:102677600-102686600	Strong transcription	Fetal Intestine Large	intestine
26	chr9:102677600-102686800	Strong transcription	Liver	Liver
27	chr9:102677600-102687000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:102677600-102687200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr9:102677600-102687800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:102677800-102684800	Strong transcription	Fetal Thymus	thymus
31	chr9:102677800-102686600	Strong transcription	HepG2	liver
32	chr9:102677800-102687200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr9:102677800-102687400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:102678000-102684800	Strong transcription	Hela-S3	cervix
35	chr9:102678600-102684200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:102678800-102684200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr9:102680000-102710800	Weak transcription	HUVEC	blood vessel
38	chr9:102680200-102684200	Weak transcription	NHDF-Ad	bronchial
39	chr9:102680400-102684200	Weak transcription	A549	lung
40	chr9:102680400-102693800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:102680400-102724800	Weak transcription	HSMM	muscle
42	chr9:102680600-102684200	Weak transcription	Fetal Kidney	kidney
43	chr9:102680600-102685000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr9:102680600-102689000	Weak transcription	Fetal Brain Male	brain
45	chr9:102681000-102684600	Weak transcription	HMEC	breast
46	chr9:102681200-102684200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:102681200-102684600	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:102681400-102684600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:102681600-102684200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:102681600-102684600	Weak transcription	Colonic Mucosa	Colon

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