Variant report

Variant	nsv968567
Chromosome Location	chr9:26849065-26849796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185589299	chr9:26849107-26849108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149967541	chr9:26849114-26849115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190583603	chr9:26849232-26849233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369526196	chr9:26849241-26849242	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548026503	chr9:26849246-26849247	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566204726	chr9:26849280-26849281	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144136603	chr9:26849292-26849293	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558216302	chr9:26849304-26849305	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576373764	chr9:26849343-26849344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537079513	chr9:26849413-26849414	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555417372	chr9:26849421-26849422	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115941235	chr9:26849444-26849445	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541590260	chr9:26849447-26849448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560304400	chr9:26849456-26849457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547661568	chr9:26849459-26849460	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572199268	chr9:26849472-26849473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546075320	chr9:26849473-26849474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73431838	chr9:26849496-26849497	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531317074	chr9:26849502-26849503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549824664	chr9:26849520-26849521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561733421	chr9:26849570-26849571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs13286987	chr9:26849572-26849573	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75356057	chr9:26849595-26849596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13286170	chr9:26849600-26849601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545238821	chr9:26849606-26849607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs377601001	chr9:26849625-26849626	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558863146	chr9:26849644-26849645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569506215	chr9:26849681-26849682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150480468	chr9:26849683-26849684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374904846	chr9:26849687-26849688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375575436	chr9:26849693-26849694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548621511	chr9:26849710-26849711	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77982312	chr9:26849742-26849743	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537016164	chr9:26849782-26849783	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26822200-26889400	Weak transcription	Psoas Muscle	Psoas
2	chr9:26830200-26865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:26832200-26866800	Weak transcription	Gastric	stomach
4	chr9:26832200-26878400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:26834000-26882400	Weak transcription	HUVEC	blood vessel
6	chr9:26834200-26849800	Weak transcription	Fetal Thymus	thymus
7	chr9:26834200-26852800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:26834200-26852800	Weak transcription	HSMMtube	muscle
9	chr9:26834200-26853400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:26834200-26854800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:26834200-26855000	Weak transcription	Ovary	ovary
12	chr9:26834200-26858800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:26834200-26859000	Weak transcription	Fetal Kidney	kidney
14	chr9:26834200-26870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:26834200-26878400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:26834200-26878600	Weak transcription	Spleen	Spleen
17	chr9:26834200-26880200	Weak transcription	Lung	lung
18	chr9:26834200-26880200	Weak transcription	NHEK	skin
19	chr9:26834200-26882200	Weak transcription	HMEC	breast
20	chr9:26834200-26888200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:26834200-26891200	Weak transcription	NHDF-Ad	bronchial
22	chr9:26834400-26854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:26836200-26854200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:26836400-26855000	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:26836400-26859000	Weak transcription	Fetal Brain Male	brain
26	chr9:26836400-26879600	Weak transcription	Esophagus	oesophagus
27	chr9:26836600-26891400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:26837400-26855200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:26837800-26855800	Weak transcription	Osteobl	bone
30	chr9:26838000-26878200	Weak transcription	Brain Germinal Matrix	brain
31	chr9:26838200-26853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr9:26838200-26858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:26838200-26879600	Weak transcription	Pancreas	Pancrea
34	chr9:26838400-26852800	Weak transcription	Aorta	Aorta
35	chr9:26838600-26854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:26838800-26852800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr9:26838800-26852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:26839000-26858600	Weak transcription	Small Intestine	intestine
39	chr9:26839400-26855600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:26839600-26854600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:26839600-26855000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:26840600-26859000	Weak transcription	Fetal Brain Female	brain
43	chr9:26840600-26882400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:26840800-26855200	Weak transcription	Fetal Lung	lung
45	chr9:26840800-26855600	Weak transcription	Brain Anterior Caudate	brain
46	chr9:26840800-26865400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr9:26840800-26879800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:26841000-26850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:26841000-26852600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr9:26841000-26855600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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