Variant report

Variant	esv3371303
Chromosome Location	chr18:8867052-8871150
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	chr18:8856621..8858928-chr18:8866174..8867957,2	K562	blood:
2	chr18:8869561..8871453-chr18:8879158..8881490,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567979384	chr18:8867053-8867054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10663988	chr18:8867060-8867061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16954471	chr18:8867068-8867069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4797337	chr18:8867113-8867114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs200874057	chr18:8867136-8867137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77823987	chr18:8867141-8867142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148895953	chr18:8867147-8867148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550349193	chr18:8867161-8867162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562789367	chr18:8867171-8867172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538798815	chr18:8867192-8867193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538919052	chr18:8867200-8867201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79134503	chr18:8867201-8867202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558898387	chr18:8867212-8867213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138578627	chr18:8867215-8867216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78241410	chr18:8867288-8867289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141602029	chr18:8867290-8867291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567469391	chr18:8867344-8867345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538229267	chr18:8867397-8867398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556317566	chr18:8867405-8867406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562669465	chr18:8867456-8867457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145480376	chr18:8867459-8867460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11081415	chr18:8867476-8867477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs690197	chr18:8867506-8867507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182687369	chr18:8867507-8867508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1383597	chr18:8867520-8867521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75264583	chr18:8867544-8867545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543166243	chr18:8867673-8867674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137975546	chr18:8867678-8867679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544177258	chr18:8867681-8867682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201985426	chr18:8867684-8867685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35392857	chr18:8867693-8867694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562369369	chr18:8867708-8867709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs621854	chr18:8867754-8867755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149539011	chr18:8867814-8867815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559874045	chr18:8867826-8867827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs632355	chr18:8867835-8867836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75614665	chr18:8867881-8867882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188851699	chr18:8867883-8867884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144134496	chr18:8867939-8867940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550121504	chr18:8867948-8867949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571571144	chr18:8868003-8868004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116601812	chr18:8868004-8868005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58007239	chr18:8868040-8868041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552019858	chr18:8868051-8868052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1481041	chr18:8868077-8868078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528045381	chr18:8868105-8868106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536829158	chr18:8868147-8868148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148729973	chr18:8868181-8868182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78407341	chr18:8868192-8868193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548219917	chr18:8868196-8868197	Enhancers Weak transcription	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8866000-8869800	Weak transcription	NHEK	skin
2	chr18:8866200-8869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:8866400-8869000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:8867000-8868000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:8867000-8868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:8867000-8868200	Weak transcription	K562	blood
7	chr18:8868000-8868600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:8868000-8869000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr18:8868000-8869000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:8868000-8869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:8868200-8868600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:8868200-8868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:8868200-8868600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:8868200-8868600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:8868200-8869000	Enhancers	K562	blood
16	chr18:8868200-8869200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:8868400-8871200	Enhancers	HSMMtube	muscle
18	chr18:8868800-8869000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr18:8868800-8869200	Enhancers	Fetal Muscle Trunk	muscle
20	chr18:8869000-8869200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr18:8869000-8878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:8869200-8869400	Enhancers	Fetal Brain Female	brain
23	chr18:8869400-8871400	Weak transcription	Fetal Brain Female	brain
24	chr18:8869400-8872000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:8869400-8872000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:8869600-8870800	Enhancers	Esophagus	oesophagus
27	chr18:8869800-8870000	Enhancers	Fetal Brain Male	brain
28	chr18:8869800-8872000	Enhancers	HMEC	breast
29	chr18:8869800-8872000	Enhancers	NHEK	skin
30	chr18:8869800-8872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:8870000-8872400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:8870000-8872600	Weak transcription	Fetal Brain Male	brain
33	chr18:8870200-8871000	Enhancers	Osteobl	bone
34	chr18:8870200-8872000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8870400-8871000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:8870400-8871000	Enhancers	HSMM	muscle
37	chr18:8870600-8871000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:8870800-8871200	Weak transcription	Esophagus	oesophagus
39	chr18:8870800-8871800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links