Variant report

Variant	esv3372463
Chromosome Location	chr18:8961352-8965650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8957060..8959618-chr18:8965152..8966883,2	K562	blood:
2	chr18:8947840..8949491-chr18:8965150..8966945,2	K562	blood:
3	chr18:8963918..8965663-chr18:8967366..8969306,2	K562	blood:
4	chr18:8954374..8957368-chr18:8964548..8967164,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFV2-3	chr18:8964493-8964808	l_1519_chr18:8964492-8969328_colon

Extended variants
information (count: 221 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8094022	chr18:8961374-8961375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77390855	chr18:8961380-8961381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182985507	chr18:8961392-8961393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532452007	chr18:8961415-8961416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77120286	chr18:8961422-8961423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150783642	chr18:8961454-8961455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537710071	chr18:8961470-8961471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376145688	chr18:8961473-8961474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529960449	chr18:8961574-8961575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548689299	chr18:8961594-8961595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186750234	chr18:8961596-8961597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369430665	chr18:8961616-8961617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558935123	chr18:8961649-8961650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189649803	chr18:8961659-8961660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112873142	chr18:8961663-8961664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183327701	chr18:8961666-8961667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574689129	chr18:8961685-8961686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542059447	chr18:8961691-8961692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554196384	chr18:8961710-8961711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187643793	chr18:8961717-8961718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543014867	chr18:8961718-8961719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564880757	chr18:8961730-8961731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532038083	chr18:8961743-8961744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376883383	chr18:8961772-8961773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139639530	chr18:8961790-8961791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559425618	chr18:8961793-8961794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529871700	chr18:8961808-8961809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548410010	chr18:8961827-8961828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56132876	chr18:8961889-8961890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531044480	chr18:8961896-8961897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552426746	chr18:8961945-8961946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115621277	chr18:8961958-8961959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577188145	chr18:8961984-8961985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534756387	chr18:8962014-8962015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145314176	chr18:8962082-8962083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568417836	chr18:8962096-8962097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535624153	chr18:8962113-8962114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557148147	chr18:8962119-8962120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573691252	chr18:8962121-8962122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147644650	chr18:8962132-8962133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113877216	chr18:8962156-8962157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555859438	chr18:8962234-8962235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376975037	chr18:8962261-8962262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192911471	chr18:8962269-8962270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540677213	chr18:8962296-8962297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75661311	chr18:8962353-8962354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75201711	chr18:8962375-8962376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570856414	chr18:8962433-8962434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564775184	chr18:8962439-8962440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185123505	chr18:8962441-8962442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8949800-8962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8958200-8962400	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:8959200-8961600	Weak transcription	Gastric	stomach
4	chr18:8959400-8961600	Enhancers	Fetal Intestine Large	intestine
5	chr18:8959400-8969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:8959800-8961800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:8960000-8962200	Enhancers	Fetal Kidney	kidney
8	chr18:8960000-8962600	Weak transcription	K562	blood
9	chr18:8960000-8963800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:8960000-8963800	Enhancers	HMEC	breast
11	chr18:8960200-8961400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:8960200-8962600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:8960200-8962600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:8960200-8962600	Weak transcription	Fetal Heart	heart
15	chr18:8960200-8962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:8960200-8963600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:8960200-8964400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:8960200-8970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:8960400-8961600	Weak transcription	Pancreas	Pancrea
20	chr18:8960400-8961600	Flanking Active TSS	A549	lung
21	chr18:8960400-8963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:8960600-8961600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:8960600-8961800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:8960600-8961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:8960600-8961800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:8960600-8961800	Enhancers	NHDF-Ad	bronchial
27	chr18:8960600-8963400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:8960800-8961600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:8960800-8961600	Enhancers	HSMM	muscle
30	chr18:8960800-8961600	Enhancers	HSMMtube	muscle
31	chr18:8960800-8961800	Enhancers	Stomach Mucosa	stomach
32	chr18:8960800-8962200	Enhancers	NHLF	lung
33	chr18:8960800-8962800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:8961000-8961400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:8961000-8961600	Flanking Active TSS	Liver	Liver
36	chr18:8961000-8963400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:8961200-8961400	Enhancers	NHEK	skin
38	chr18:8961200-8961800	Enhancers	NH-A	brain
39	chr18:8961200-8961800	Enhancers	Osteobl	bone
40	chr18:8961200-8963400	Enhancers	HepG2	liver
41	chr18:8961400-8961600	Enhancers	Duodenum Mucosa	Duodenum
42	chr18:8961400-8961600	Enhancers	Fetal Lung	lung
43	chr18:8961400-8961600	Flanking Active TSS	NHEK	skin
44	chr18:8961400-8963200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr18:8961400-8963400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:8961600-8961800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:8961600-8961800	Enhancers	Small Intestine	intestine
48	chr18:8961600-8962200	Enhancers	Gastric	stomach
49	chr18:8961600-8962400	Enhancers	Liver	Liver
50	chr18:8961600-8962600	Weak transcription	HSMMtube	muscle

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