Variant report

Variant	nsv909574
Chromosome Location	chr18:40440609-40488279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:40440814..40443148-chr18:40445751..40448526,2	K562	blood:
2	chr18:40440814..40443148-chr18:40445751..40448526,2	K562	blood:
3	chr18:40470184..40470769-chr18:40528826..40529795,2	MCF-7	breast:

Extended variants
information (count: 1301 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16977068	chr18:40440609-40440610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181116928	chr18:40440612-40440613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538066573	chr18:40440652-40440653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568752716	chr18:40440697-40440698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149330201	chr18:40440714-40440715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117167504	chr18:40440735-40440736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528638512	chr18:40440755-40440756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146281717	chr18:40440762-40440763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547974159	chr18:40440825-40440826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568328587	chr18:40440873-40440874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186365056	chr18:40440879-40440880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565933139	chr18:40440889-40440890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370582582	chr18:40440910-40440911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539587311	chr18:40440956-40440957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550801773	chr18:40440972-40440973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17641592	chr18:40440981-40440982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139396419	chr18:40441002-40441003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534252322	chr18:40441072-40441073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552537678	chr18:40441084-40441085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375696712	chr18:40441145-40441146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558889912	chr18:40441149-40441150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113660827	chr18:40441172-40441173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191614622	chr18:40441240-40441241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144012097	chr18:40441246-40441247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574568097	chr18:40441255-40441256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145939771	chr18:40441313-40441314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180847088	chr18:40441329-40441330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148639767	chr18:40441352-40441353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544655286	chr18:40441357-40441358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558238241	chr18:40441427-40441428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575173219	chr18:40441435-40441436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545422074	chr18:40441440-40441441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564421617	chr18:40441531-40441532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114049886	chr18:40441549-40441550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546908778	chr18:40441624-40441625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561897456	chr18:40441636-40441637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34204951	chr18:40441647-40441648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529476111	chr18:40441668-40441669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs612241	chr18:40441714-40441715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537067178	chr18:40441759-40441760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569301821	chr18:40441775-40441776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539801905	chr18:40441799-40441800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551835040	chr18:40441821-40441822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367721492	chr18:40441827-40441828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185447796	chr18:40441840-40441841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370096975	chr18:40441881-40441882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534887802	chr18:40441901-40441902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553312401	chr18:40441910-40441911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116245804	chr18:40441975-40441976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575359014	chr18:40442116-40442117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40436600-40443600	Weak transcription	Fetal Intestine Large	intestine
2	chr18:40440800-40441400	Enhancers	Fetal Lung	lung
3	chr18:40443600-40445600	Enhancers	Fetal Intestine Large	intestine
4	chr18:40444400-40445600	Enhancers	Fetal Intestine Small	intestine
5	chr18:40445000-40445400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:40445200-40446400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:40445400-40468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:40452200-40452600	Enhancers	Fetal Stomach	stomach
9	chr18:40452600-40454800	Weak transcription	Fetal Stomach	stomach
10	chr18:40454600-40454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:40454800-40455000	Enhancers	Fetal Stomach	stomach
12	chr18:40455400-40455600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:40464400-40464800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:40464400-40464800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:40467400-40468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:40467400-40468200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr18:40467400-40468400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:40467400-40469000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:40467600-40468000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:40468400-40468800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:40470600-40471200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:40470800-40471200	Enhancers	Colon Smooth Muscle	Colon
23	chr18:40471000-40472600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:40472600-40473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:40473800-40474400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:40474000-40474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:40474000-40474400	Enhancers	Fetal Lung	lung
28	chr18:40476800-40477400	Enhancers	Stomach Mucosa	stomach
29	chr18:40477000-40477400	Enhancers	Fetal Intestine Large	intestine
30	chr18:40487200-40487600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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