Variant report

Variant	esv3434971
Chromosome Location	chr18:9204811-9207263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9195200..9197082-chr18:9203483..9205198,2	K562	blood:
2	chr18:9201149..9204433-chr18:9205696..9208292,3	K562	blood:
3	chr18:9007606..9010125-chr18:9203134..9206117,2	K562	blood:
4	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:
5	chr18:9199977..9204433-chr18:9205247..9208292,4	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539660825	chr18:9204867-9204868	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547737804	chr18:9204877-9204878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191132262	chr18:9204883-9204884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536477629	chr18:9204888-9204889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554753390	chr18:9204920-9204921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140771547	chr18:9204932-9204933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150103649	chr18:9204938-9204939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558485053	chr18:9204963-9204964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76467703	chr18:9204974-9204975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573025860	chr18:9205018-9205019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2120316	chr18:9205100-9205101	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182554649	chr18:9205116-9205117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371125125	chr18:9205125-9205126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370119455	chr18:9205168-9205169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542449597	chr18:9205170-9205171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79517240	chr18:9205184-9205185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548078907	chr18:9205200-9205201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529243177	chr18:9205205-9205206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373689985	chr18:9205209-9205210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531395031	chr18:9205218-9205219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11449774	chr18:9205257-9205258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397717565	chr18:9205261-9205262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398120163	chr18:9205262-9205263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369588038	chr18:9205263-9205264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543556439	chr18:9205276-9205277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188041708	chr18:9205304-9205305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11352784	chr18:9205321-9205322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532171591	chr18:9205329-9205330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141299568	chr18:9205345-9205346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2028656	chr18:9205376-9205377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529848378	chr18:9205413-9205414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147019208	chr18:9205498-9205499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138186834	chr18:9205515-9205516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77825781	chr18:9205528-9205529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558649323	chr18:9205546-9205547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546845882	chr18:9205578-9205579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568294038	chr18:9205635-9205636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143885350	chr18:9205709-9205710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199987576	chr18:9205742-9205743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534731870	chr18:9205774-9205775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144230101	chr18:9205777-9205778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368041728	chr18:9205802-9205803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575029479	chr18:9205825-9205826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35480339	chr18:9205879-9205880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148288937	chr18:9205881-9205882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557495117	chr18:9205882-9205883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192374072	chr18:9205883-9205884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141471951	chr18:9206055-9206056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565004642	chr18:9206119-9206120	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532132903	chr18:9206150-9206151	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9173000-9208400	Weak transcription	NHLF	lung
3	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
4	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
5	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
6	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
7	chr18:9180200-9214200	Weak transcription	A549	lung
8	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
13	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
15	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
17	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
18	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
19	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
20	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
22	chr18:9188600-9205400	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
26	chr18:9189000-9208400	Weak transcription	HSMMtube	muscle
27	chr18:9189200-9208600	Weak transcription	Ovary	ovary
28	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
30	chr18:9192200-9210400	Weak transcription	Left Ventricle	heart
31	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
32	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:9192200-9284000	Weak transcription	NHEK	skin
34	chr18:9192400-9211600	Weak transcription	HMEC	breast
35	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:9193000-9211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:9193200-9211200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:9193400-9224800	Weak transcription	Lung	lung
39	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
40	chr18:9193800-9211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:9194200-9206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr18:9194200-9211400	Weak transcription	NH-A	brain
43	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr18:9195800-9211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:9196000-9208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:9196000-9208600	Weak transcription	Dnd41	blood
49	chr18:9196000-9209800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:9196200-9207800	Weak transcription	Muscle Satellite Cultured Cells	--

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