Variant report

Variant	nsv982339
Chromosome Location	chr9:116020978-116021478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116016494..116018131-chr9:116019825..116021408,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78567501	chr9:116020998-116020999	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141861485	chr9:116021029-116021030	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201657550	chr9:116021072-116021073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375955349	chr9:116021079-116021080	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142161216	chr9:116021113-116021114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370187240	chr9:116021117-116021118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2233916	chr9:116021136-116021137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7853810	chr9:116021179-116021180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2233917	chr9:116021183-116021184	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7854131	chr9:116021209-116021210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139831178	chr9:116021215-116021216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574149085	chr9:116021218-116021219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530962115	chr9:116021232-116021233	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151224518	chr9:116021247-116021248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141387455	chr9:116021302-116021303	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146936453	chr9:116021303-116021304	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565242164	chr9:116021339-116021340	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531044638	chr9:116021357-116021358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551068635	chr9:116021397-116021398	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34072378	chr9:116021402-116021403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567634171	chr9:116021455-116021456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115985800-116021000	Weak transcription	Fetal Stomach	stomach
2	chr9:115987800-116021000	Weak transcription	Hela-S3	cervix
3	chr9:115996000-116022200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:115996000-116031600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:115996200-116022400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:116008200-116037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:116009600-116029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:116010200-116031800	Weak transcription	Fetal Heart	heart
9	chr9:116011400-116028800	Weak transcription	Fetal Kidney	kidney
10	chr9:116011600-116021000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:116013400-116022200	Weak transcription	Gastric	stomach
12	chr9:116014200-116021000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:116014400-116021000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:116014400-116022200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:116015400-116021000	Weak transcription	Thymus	Thymus
16	chr9:116016400-116021000	Weak transcription	Lung	lung
17	chr9:116016400-116022200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:116016800-116021000	Weak transcription	Pancreas	Pancrea
19	chr9:116017000-116021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:116017000-116022200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:116017200-116021000	Weak transcription	Spleen	Spleen
22	chr9:116017200-116022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:116017200-116023000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:116017400-116023200	Strong transcription	HepG2	liver
25	chr9:116017400-116023600	Strong transcription	Fetal Intestine Small	intestine
26	chr9:116017400-116025800	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:116017600-116026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:116017600-116031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:116017800-116021200	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:116017800-116025200	Strong transcription	Left Ventricle	heart
31	chr9:116017800-116025400	Strong transcription	Fetal Brain Female	brain
32	chr9:116017800-116026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:116018000-116021000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:116018000-116021000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:116018000-116021200	Strong transcription	K562	blood
36	chr9:116018000-116024600	Weak transcription	HMEC	breast
37	chr9:116018000-116025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:116018000-116027600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:116018200-116022200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr9:116018200-116024200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:116018200-116026200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:116018400-116022600	Strong transcription	NH-A	brain
43	chr9:116018400-116023000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:116018400-116024400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:116018400-116024600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:116018400-116024800	Strong transcription	NHEK	skin
47	chr9:116018400-116025200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:116018400-116026000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:116018600-116021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:116018600-116021400	Genic enhancers	Liver	Liver

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