Variant report

Variant	nsv825056
Chromosome Location	chr9:116774890-116775792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116774861..116777762-chr9:117046301..117047948,2	MCF-7	breast:
2	chr9:116773482..116775850-chr9:116777082..116779157,3	MCF-7	breast:
3	chr9:116768367..116772045-chr9:116772665..116776100,5	MCF-7	breast:
4	chr9:116773678..116775995-chr9:116779298..116781749,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549542297	chr9:116774896-116774897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565884900	chr9:116774905-116774906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534774806	chr9:116774927-116774928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374312009	chr9:116774931-116774932	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557765781	chr9:116774945-116774946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554275483	chr9:116774976-116774977	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10565486	chr9:116775026-116775027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201286062	chr9:116775030-116775031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113425093	chr9:116775051-116775052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140701900	chr9:116775075-116775076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539743276	chr9:116775091-116775092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187482151	chr9:116775094-116775095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144210247	chr9:116775135-116775136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117161884	chr9:116775166-116775167	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547711461	chr9:116775184-116775185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561843330	chr9:116775187-116775188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78358545	chr9:116775261-116775262	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202078534	chr9:116775270-116775271	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200270162	chr9:116775272-116775273	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564090785	chr9:116775273-116775274	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398046844	chr9:116775283-116775284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565983861	chr9:116775326-116775327	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532744183	chr9:116775337-116775338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533120577	chr9:116775409-116775410	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550455882	chr9:116775440-116775441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563864967	chr9:116775556-116775557	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73556490	chr9:116775604-116775605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191952466	chr9:116775679-116775680	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375634507	chr9:116775701-116775702	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549343202	chr9:116775719-116775720	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527371693	chr9:116775722-116775723	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182870382	chr9:116775750-116775751	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188282306	chr9:116775771-116775772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551434395	chr9:116775772-116775773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10739399	chr9:116775775-116775776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:131 , 50 per page) page: 1 2 3

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	chr9:116756400-116775600	Weak transcription	Primary B cells from cord blood	blood
4	chr9:116756800-116779000	Weak transcription	Esophagus	oesophagus
5	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:116757000-116779600	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:116757000-116779800	Weak transcription	Colonic Mucosa	Colon
8	chr9:116757000-116783400	Weak transcription	Small Intestine	intestine
9	chr9:116758400-116775000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:116762200-116775400	Strong transcription	Liver	Liver
11	chr9:116762200-116780400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:116762400-116776800	Strong transcription	Fetal Intestine Large	intestine
13	chr9:116763800-116777000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:116765000-116783200	Weak transcription	NHEK	skin
16	chr9:116765800-116784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:116766000-116784800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
19	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:116766200-116775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:116766600-116782400	Strong transcription	A549	lung
23	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:116766800-116775000	Strong transcription	Fetal Lung	lung
25	chr9:116767000-116780400	Weak transcription	Brain Angular Gyrus	brain
26	chr9:116767200-116779000	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:116767200-116779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:116767400-116776200	Weak transcription	Brain Anterior Caudate	brain
30	chr9:116768000-116775000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:116768000-116777000	Strong transcription	HSMM	muscle
32	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:116768800-116778800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:116769000-116775200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:116769200-116779000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:116769400-116775400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:116769400-116778000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:116769400-116780200	Weak transcription	Thymus	Thymus
40	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
41	chr9:116770400-116779800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:116771000-116779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:116771200-116779200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:116771400-116779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:116771600-116778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:116771800-116779000	Weak transcription	Gastric	stomach
47	chr9:116772000-116779000	Weak transcription	Spleen	Spleen
48	chr9:116772400-116779000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:116772800-116775000	Strong transcription	Ovary	ovary
50	chr9:116773000-116775000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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