Variant report

Variant	nsv599076
Chromosome Location	chr5:97423476-97478555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-2	chr5:97429104-97429275	XLOC_004935

Variant related genes	Relation type
CTLA4	miRNA target sites

Extended variants
information (count: 2268 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2268 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs257226	chr5:97423476-97423477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546662735	chr5:97423498-97423499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181907855	chr5:97423507-97423508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73145475	chr5:97423528-97423529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556460656	chr5:97423565-97423566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185411041	chr5:97423598-97423599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148154739	chr5:97423610-97423611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142547305	chr5:97423615-97423616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566829611	chr5:97423642-97423643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533930106	chr5:97423691-97423692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558570303	chr5:97423722-97423723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576355733	chr5:97423738-97423739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73145477	chr5:97423812-97423813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544721657	chr5:97423833-97423834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189387230	chr5:97423873-97423874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34578273	chr5:97423878-97423879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181325090	chr5:97423925-97423926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371261897	chr5:97423926-97423927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373096232	chr5:97423935-97423936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561162762	chr5:97423937-97423938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542954284	chr5:97423958-97423959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186412161	chr5:97423965-97423966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543934424	chr5:97429111-97429112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs17655487	chr5:97429133-97429134	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139926834	chr5:97429134-97429135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs181926145	chr5:97429178-97429179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs35881491	chr5:97429184-97429185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs202016411	chr5:97429185-97429186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs541041748	chr5:97429201-97429202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs10866786	chr5:97429223-97429224	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs149285667	chr5:97429233-97429234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs187196925	chr5:97429271-97429272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551071385	chr5:97429272-97429273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs530578508	chr5:97430212-97430213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554578791	chr5:97430221-97430222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564119501	chr5:97430318-97430319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572983037	chr5:97430345-97430346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144942748	chr5:97430373-97430374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375852605	chr5:97430386-97430387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147949858	chr5:97430413-97430414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140551477	chr5:97430414-97430415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550278440	chr5:97430437-97430438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544879920	chr5:97430457-97430458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1423313	chr5:97430527-97430528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575643032	chr5:97430536-97430537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182609571	chr5:97430544-97430545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560838492	chr5:97430610-97430611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187555969	chr5:97430646-97430647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546580857	chr5:97430657-97430658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371594020	chr5:97430658-97430659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97423200-97423800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97423200-97424000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:97423400-97424000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:97430200-97430400	Enhancers	NHDF-Ad	bronchial
5	chr5:97430400-97431400	Weak transcription	NHDF-Ad	bronchial
6	chr5:97431000-97432600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:97431400-97432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:97431400-97432800	Enhancers	NHDF-Ad	bronchial
9	chr5:97431600-97432000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:97431600-97432400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:97431600-97432600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:97431600-97432600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:97431600-97432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:97431600-97432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:97431600-97432600	Enhancers	HMEC	breast
16	chr5:97431600-97432800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:97431800-97432200	Enhancers	HSMM	muscle
18	chr5:97431800-97432200	Enhancers	NHLF	lung
19	chr5:97431800-97432400	Enhancers	NH-A	brain
20	chr5:97431800-97432600	Enhancers	NHEK	skin
21	chr5:97431800-97432800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:97431800-97432800	Enhancers	Osteobl	bone
23	chr5:97432000-97432200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:97432200-97432600	Weak transcription	NHLF	lung
25	chr5:97432200-97440800	Weak transcription	HSMM	muscle
26	chr5:97432400-97432800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:97432400-97433400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:97432400-97443400	Weak transcription	NH-A	brain
29	chr5:97432600-97432800	Enhancers	NHLF	lung
30	chr5:97432600-97433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:97432600-97433600	Weak transcription	NHEK	skin
32	chr5:97432600-97435200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:97432600-97435200	Weak transcription	HMEC	breast
34	chr5:97432600-97435600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:97432600-97437200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:97432800-97434800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:97432800-97435200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:97432800-97435200	Weak transcription	NHDF-Ad	bronchial
39	chr5:97432800-97439600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:97432800-97440600	Weak transcription	NHLF	lung
41	chr5:97432800-97441400	Weak transcription	Osteobl	bone
42	chr5:97433000-97434400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:97433400-97434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:97433600-97434000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:97433600-97434000	ZNF genes & repeats	NHEK	skin
46	chr5:97434000-97435200	Weak transcription	NHEK	skin
47	chr5:97434000-97435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:97434000-97435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:97434200-97435200	Enhancers	HUVEC	blood vessel
50	chr5:97434400-97435200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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