Variant report

Variant	nsv521361
Chromosome Location	chr9:116774010-116780992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116778931..116781819-chr9:116782880..116785170,2	MCF-7	breast:
2	chr9:116773482..116775850-chr9:116777082..116779157,3	MCF-7	breast:
3	chr9:116774861..116777762-chr9:117046301..117047948,2	MCF-7	breast:
4	chr9:116773678..116775995-chr9:116779298..116781749,2	K562	blood:
5	chr9:116768367..116772045-chr9:116772665..116776100,5	MCF-7	breast:
6	chr9:116773482..116775850-chr9:116777082..116779157,3	MCF-7	breast:
7	chr9:116773678..116775995-chr9:116779298..116781749,2	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17203945	chr9:116774010-116774011	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539691273	chr9:116774019-116774020	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186213104	chr9:116774087-116774088	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1886130	chr9:116774088-116774089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576065492	chr9:116774109-116774110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555529341	chr9:116774142-116774143	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371459640	chr9:116774143-116774144	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572114266	chr9:116774173-116774174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537016759	chr9:116774189-116774190	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555090319	chr9:116774194-116774195	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573608759	chr9:116774256-116774257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542100355	chr9:116774276-116774277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10982029	chr9:116774283-116774284	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372244026	chr9:116774315-116774316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372803088	chr9:116774316-116774317	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368708205	chr9:116774319-116774320	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534563823	chr9:116774360-116774361	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199776879	chr9:116774381-116774382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200952730	chr9:116774382-116774383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372067467	chr9:116774383-116774384	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs397744949	chr9:116774384-116774385	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7041524	chr9:116774399-116774400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs564572680	chr9:116774427-116774428	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369090465	chr9:116774430-116774431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531738193	chr9:116774435-116774436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs7042021	chr9:116774499-116774500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562720650	chr9:116774588-116774589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs34560424	chr9:116774638-116774639	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531442572	chr9:116774639-116774640	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531379051	chr9:116774711-116774712	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7042081	chr9:116774730-116774731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561727216	chr9:116774758-116774759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148770021	chr9:116774761-116774762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547443659	chr9:116774766-116774767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182797284	chr9:116774768-116774769	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142479172	chr9:116774786-116774787	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75129908	chr9:116774816-116774817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570232185	chr9:116774824-116774825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146873697	chr9:116774849-116774850	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371097794	chr9:116774863-116774864	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549542297	chr9:116774896-116774897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565884900	chr9:116774905-116774906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534774806	chr9:116774927-116774928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374312009	chr9:116774931-116774932	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557765781	chr9:116774945-116774946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554275483	chr9:116774976-116774977	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs10565486	chr9:116775026-116775027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201286062	chr9:116775030-116775031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113425093	chr9:116775051-116775052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140701900	chr9:116775075-116775076	Weak transcription Strong transcription ZNF genes & repeats	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:287 , 50 per page) page: 1 2 3 4 5 6

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	chr9:116766400-116774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:116766600-116782400	Strong transcription	A549	lung
24	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:116766800-116775000	Strong transcription	Fetal Lung	lung
26	chr9:116767000-116774400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:116767000-116780400	Weak transcription	Brain Angular Gyrus	brain
28	chr9:116767200-116779000	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:116767200-116779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:116767400-116776200	Weak transcription	Brain Anterior Caudate	brain
32	chr9:116768000-116775000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr9:116768000-116777000	Strong transcription	HSMM	muscle
34	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:116768800-116778800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:116769000-116775200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:116769200-116774200	Strong transcription	Fetal Intestine Small	intestine
39	chr9:116769200-116774800	Strong transcription	Fetal Stomach	stomach
40	chr9:116769200-116779000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:116769400-116775400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:116769400-116778000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:116769400-116780200	Weak transcription	Thymus	Thymus
44	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
45	chr9:116770400-116779800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:116771000-116774400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:116771000-116779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:116771200-116774400	Weak transcription	Fetal Brain Female	brain
49	chr9:116771200-116779200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:116771400-116779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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