Variant report

Variant	nsv828176
Chromosome Location	chr18:9276946-9277822
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	chr18:9275475..9277686-chr18:9279833..9282533,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369947496	chr18:9276952-9276953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201356714	chr18:9277017-9277018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541575722	chr18:9277053-9277054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78197021	chr18:9277102-9277103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73396110	chr18:9277114-9277115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74786654	chr18:9277179-9277180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138729693	chr18:9277200-9277201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531282205	chr18:9277233-9277234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546077925	chr18:9277246-9277247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375349382	chr18:9277251-9277252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113658850	chr18:9277275-9277276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564374200	chr18:9277276-9277277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568968483	chr18:9277309-9277310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142202627	chr18:9277315-9277316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12965966	chr18:9277316-9277317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375920172	chr18:9277319-9277320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12965968	chr18:9277320-9277321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200237211	chr18:9277334-9277335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201513661	chr18:9277338-9277339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559563806	chr18:9277389-9277390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202067374	chr18:9277436-9277437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547112363	chr18:9277451-9277452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573092609	chr18:9277470-9277471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369487923	chr18:9277471-9277472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541076407	chr18:9277492-9277493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373432467	chr18:9277498-9277499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9950097	chr18:9277525-9277526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs369542760	chr18:9277538-9277539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376430781	chr18:9277544-9277545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569550105	chr18:9277547-9277548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561796704	chr18:9277561-9277562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186192663	chr18:9277564-9277565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558879420	chr18:9277605-9277606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189050458	chr18:9277616-9277617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530525715	chr18:9277624-9277625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563750582	chr18:9277677-9277678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138938454	chr18:9277707-9277708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367724619	chr18:9277710-9277711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573817694	chr18:9277802-9277803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9216000-9289600	Weak transcription	HMEC	breast
3	chr18:9234400-9280400	Weak transcription	Psoas Muscle	Psoas
4	chr18:9234600-9278000	Weak transcription	Brain Angular Gyrus	brain
5	chr18:9234800-9290000	Weak transcription	NHLF	lung
6	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:9240800-9279800	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:9243600-9278000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:9243600-9283000	Weak transcription	Brain Substantia Nigra	brain
10	chr18:9254800-9280000	Weak transcription	Hela-S3	cervix
11	chr18:9255000-9281400	Weak transcription	HUVEC	blood vessel
12	chr18:9255000-9282600	Weak transcription	A549	lung
13	chr18:9257000-9277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:9258600-9279000	Weak transcription	Fetal Brain Male	brain
15	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
16	chr18:9261400-9283400	Weak transcription	Fetal Heart	heart
17	chr18:9264600-9281600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:9265000-9286000	Weak transcription	K562	blood
19	chr18:9265200-9277000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:9265200-9278600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:9265200-9281200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr18:9265200-9281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:9265200-9284200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:9265600-9278000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:9265600-9278000	Weak transcription	HepG2	liver
29	chr18:9265600-9278400	Weak transcription	Gastric	stomach
30	chr18:9265600-9278400	Weak transcription	Spleen	Spleen
31	chr18:9265600-9280000	Weak transcription	Colonic Mucosa	Colon
32	chr18:9265600-9282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:9265600-9282600	Weak transcription	Right Ventricle	heart
34	chr18:9265600-9288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:9265600-9289600	Weak transcription	Esophagus	oesophagus
36	chr18:9265600-9291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:9265600-9292400	Weak transcription	Aorta	Aorta
38	chr18:9265600-9298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:9265800-9286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:9265800-9290000	Weak transcription	HSMMtube	muscle
41	chr18:9270400-9280600	Strong transcription	Fetal Muscle Leg	muscle
42	chr18:9270400-9281000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr18:9270400-9281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:9270400-9283400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr18:9270400-9284200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr18:9270400-9284800	Strong transcription	Liver	Liver
47	chr18:9270800-9279800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:9270800-9281000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:9270800-9281200	Strong transcription	Fetal Intestine Large	intestine
50	chr18:9270800-9281400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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