Variant report

Variant	esv3450483
Chromosome Location	chr18:8670052-8673550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8668588..8670326-chr18:8673420..8675125,2	K562	blood:
2	chr18:8663885..8666414-chr18:8671675..8674406,2	K562	blood:
3	chr18:8659422..8661406-chr18:8668712..8671092,2	K562	blood:
4	chr18:8668588..8670326-chr18:8673420..8675125,2	K562	blood:
5	chr18:8613548..8616078-chr18:8673305..8676366,3	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561247711	chr18:8670057-8670058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553386952	chr18:8670071-8670072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550971158	chr18:8670072-8670073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571209872	chr18:8670080-8670081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137887875	chr18:8670085-8670086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540032183	chr18:8670116-8670117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144372177	chr18:8670136-8670137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554200178	chr18:8670138-8670139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576169421	chr18:8670158-8670159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547228141	chr18:8670170-8670171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543571828	chr18:8670176-8670177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369393883	chr18:8670179-8670180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558442444	chr18:8670189-8670190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545516362	chr18:8670203-8670204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71356245	chr18:8670205-8670206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553949193	chr18:8670206-8670207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78214353	chr18:8670225-8670226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71165801	chr18:8670226-8670227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79787284	chr18:8670227-8670228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34487798	chr18:8670260-8670261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541322136	chr18:8670272-8670273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35737373	chr18:8670298-8670299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183100957	chr18:8670321-8670322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532661746	chr18:8670399-8670400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147433515	chr18:8670412-8670413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34440925	chr18:8670430-8670431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs62086843	chr18:8670447-8670448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187601130	chr18:8670459-8670460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570941987	chr18:8670460-8670461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192810428	chr18:8670467-8670468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546888407	chr18:8670480-8670481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9675533	chr18:8670492-8670493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139717650	chr18:8670504-8670505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12954163	chr18:8670524-8670525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12955230	chr18:8670544-8670545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145181861	chr18:8670553-8670554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372965789	chr18:8670586-8670587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576919769	chr18:8670591-8670592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377289745	chr18:8670602-8670603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113305177	chr18:8670618-8670619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183753820	chr18:8670631-8670632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527885334	chr18:8670643-8670644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553295814	chr18:8670645-8670646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142956275	chr18:8670737-8670738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200892977	chr18:8670738-8670739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75002714	chr18:8670752-8670753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60997471	chr18:8670762-8670763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369101054	chr18:8670763-8670764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368777538	chr18:8670772-8670773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574734532	chr18:8670783-8670784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8653800-8703400	Weak transcription	Right Atrium	heart
2	chr18:8662200-8673400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:8663400-8671800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:8666000-8670600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:8667000-8672800	Weak transcription	A549	lung
6	chr18:8668600-8671800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:8668800-8673000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:8669600-8672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:8669600-8674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:8669800-8671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:8670600-8671000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:8671800-8673000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:8671800-8673000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:8671800-8674600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr18:8672000-8672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:8672200-8674600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:8672600-8673000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:8672600-8674000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr18:8672600-8674600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:8672800-8673600	Enhancers	A549	lung
21	chr18:8673000-8673400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:8673000-8673400	Enhancers	GM12878-XiMat	blood
23	chr18:8673000-8674000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:8673000-8674000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:8673000-8674200	Enhancers	Primary B cells from peripheral blood	blood
26	chr18:8673400-8673800	Active TSS	GM12878-XiMat	blood
27	chr18:8673400-8674200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:8673400-8674400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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