Variant report

Variant	nsv521362
Chromosome Location	chr9:116782921-116785558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:116784340-116784490	AoAF	blood vessel:	n/a	n/a
2	POLR2A	chr9:116785502-116785590	GM12878	blood:	n/a	n/a
3	SETDB1	chr9:116785076-116785510	U2OS	brain:	n/a	n/a
4	SPI1	chr9:116783869-116784238	HL-60	blood:	n/a	n/a
5	SPI1	chr9:116783736-116784274	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116778931..116781819-chr9:116782880..116785170,2	MCF-7	breast:

Variant related genes	Relation type
ZNF618	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10982035	chr9:116782921-116782922	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111818545	chr9:116782938-116782939	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2163575	chr9:116782943-116782944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539412072	chr9:116782947-116782948	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2116406	chr9:116782985-116782986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542878762	chr9:116782989-116782990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144549110	chr9:116783003-116783004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150688043	chr9:116783059-116783060	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545182417	chr9:116783112-116783113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565423401	chr9:116783123-116783124	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564642969	chr9:116783146-116783147	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373927152	chr9:116783202-116783203	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139706215	chr9:116783230-116783231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149777180	chr9:116783247-116783248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561230023	chr9:116783254-116783255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113672422	chr9:116783260-116783261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs398046845	chr9:116783263-116783264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35354748	chr9:116783322-116783323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76400645	chr9:116783350-116783351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs181717215	chr9:116783375-116783376	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145692487	chr9:116783461-116783462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534857541	chr9:116783474-116783475	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376583285	chr9:116783584-116783585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12335772	chr9:116783592-116783593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139989834	chr9:116783615-116783616	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145403990	chr9:116783638-116783639	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573276549	chr9:116783642-116783643	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570226307	chr9:116783644-116783645	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1991706	chr9:116783663-116783664	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187092258	chr9:116783697-116783698	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12554879	chr9:116783711-116783712	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79992806	chr9:116783724-116783725	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60351204	chr9:116783735-116783736	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575894127	chr9:116783745-116783746	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115966227	chr9:116783755-116783756	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147627570	chr9:116783784-116783785	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79611447	chr9:116783798-116783799	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190184460	chr9:116783813-116783814	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370459507	chr9:116783838-116783839	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62556514	chr9:116783852-116783853	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578149381	chr9:116783865-116783866	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538619596	chr9:116783881-116783882	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530074659	chr9:116783891-116783892	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540621121	chr9:116783897-116783898	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151216580	chr9:116783941-116783942	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528354575	chr9:116783990-116783991	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182552569	chr9:116784039-116784040	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551588096	chr9:116784067-116784068	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571320574	chr9:116784119-116784120	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140365557	chr9:116784130-116784131	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116736400-116783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116757000-116783400	Weak transcription	Small Intestine	intestine
5	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116765000-116783200	Weak transcription	NHEK	skin
7	chr9:116765800-116784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:116766000-116784800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
10	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
17	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
18	chr9:116774000-116791200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:116774000-116791200	Weak transcription	Fetal Brain Male	brain
20	chr9:116774200-116783800	Weak transcription	HMEC	breast
21	chr9:116774200-116798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:116774600-116790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:116775200-116783400	Weak transcription	NH-A	brain
24	chr9:116775400-116784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:116775600-116783000	Strong transcription	Fetal Lung	lung
26	chr9:116776200-116789800	Strong transcription	HUVEC	blood vessel
27	chr9:116777800-116785000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:116778000-116785200	Strong transcription	NHDF-Ad	bronchial
29	chr9:116778400-116783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:116778400-116783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:116778400-116785000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr9:116778400-116785400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:116778600-116783400	Strong transcription	Adipose Nuclei	Adipose
34	chr9:116779000-116783000	Strong transcription	Liver	Liver
35	chr9:116780200-116798600	Weak transcription	Colonic Mucosa	Colon
36	chr9:116780400-116783800	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:116780600-116796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:116780800-116784800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:116780800-116786800	Weak transcription	Left Ventricle	heart
40	chr9:116780800-116788000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:116780800-116788000	Weak transcription	Spleen	Spleen
42	chr9:116780800-116791000	Weak transcription	Gastric	stomach
43	chr9:116780800-116791000	Weak transcription	Pancreas	Pancrea
44	chr9:116780800-116791200	Weak transcription	Thymus	Thymus
45	chr9:116780800-116792800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:116780800-116796800	Weak transcription	Brain Angular Gyrus	brain
47	chr9:116780800-116798000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:116780800-116800200	Weak transcription	Esophagus	oesophagus
49	chr9:116781000-116783600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr9:116781000-116784000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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