Variant report

Variant	nsv598534
Chromosome Location	chr5:69697815-69780256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69699525-69699963	GM12878	blood:	n/a	n/a
2	BATF	chr5:69700343-69700605	GM12878	blood:	n/a	n/a
3	BATF	chr5:69704209-69704514	GM12878	blood:	n/a	n/a
4	BATF	chr5:69698071-69698455	GM12878	blood:	n/a	n/a
5	BATF	chr5:69703633-69704665	GM12878	blood:	n/a	n/a
6	BATF	chr5:69710854-69711383	GM12878	blood:	n/a	n/a
7	BATF	chr5:69712289-69712493	GM12878	blood:	n/a	n/a
8	BATF	chr5:69753018-69753328	GM12878	blood:	n/a	n/a
9	BATF	chr5:69699561-69699834	GM12878	blood:	n/a	n/a
10	BATF	chr5:69698885-69699248	GM12878	blood:	n/a	n/a
11	BATF	chr5:69698171-69698485	GM12878	blood:	n/a	n/a
12	BATF	chr5:69700632-69701048	GM12878	blood:	n/a	n/a
13	BATF	chr5:69697225-69697874	GM12878	blood:	n/a	n/a
14	BATF	chr5:69712063-69712542	GM12878	blood:	n/a	chr5:69712253-69712264
15	BATF	chr5:69701063-69701468	GM12878	blood:	n/a	n/a
16	BATF	chr5:69702084-69702527	GM12878	blood:	n/a	n/a
17	BATF	chr5:69711412-69711624	GM12878	blood:	n/a	n/a
18	BATF	chr5:69700337-69700589	GM12878	blood:	n/a	n/a
19	BATF	chr5:69702143-69702413	GM12878	blood:	n/a	n/a
20	BATF	chr5:69710914-69711224	GM12878	blood:	n/a	n/a
21	BATF	chr5:69697360-69697827	GM12878	blood:	n/a	n/a
22	BATF	chr5:69701242-69701453	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:69702627-69702984	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:69702147-69702435	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:69699087-69699278	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:69710803-69711398	GM12878	blood:	n/a	chr5:69711126-69711135
27	BCL11A	chr5:69701083-69701479	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:69710833-69711422	GM12878	blood:	n/a	chr5:69711126-69711135
29	BCL11A	chr5:69752885-69753406	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:69702214-69702391	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:69698791-69699092	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:69712176-69712553	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:69698210-69698402	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:69699553-69699947	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:69704064-69704554	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:69697237-69698546	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:69703807-69704002	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:69700292-69700634	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:69703648-69704581	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:69701200-69701381	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:69697224-69697868	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:69753005-69753291	GM12878	blood:	n/a	n/a
43	BHLHE40	chr5:69698748-69699072	HepG2	liver:	n/a	n/a
44	BHLHE40	chr5:69704390-69704635	HepG2	liver:	n/a	n/a
45	BHLHE40	chr5:69697566-69697895	HepG2	liver:	n/a	n/a
46	BHLHE40	chr5:69710967-69711279	HepG2	liver:	n/a	chr5:69711058-69711074 chr5:69711074-69711090
47	BHLHE40	chr5:69702918-69703133	HepG2	liver:	n/a	n/a
48	CBX3	chr5:69697257-69697829	K562	blood:	n/a	n/a
49	CBX3	chr5:69710843-69711285	K562	blood:	n/a	n/a
50	CBX3	chr5:69710571-69711553	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAIP-2	chr5:69776697-69777165	NONHSAT101978
2	lnc-SMN2-2	chr5:69745463-69746180	ENSG00000269983.1
3	lnc-NAIP-3	chr5:69733322-69734405	NONHSAT101975

Variant related genes	Relation type
ENSG00000250687	TF binding region
ENSG00000237075	TF binding region
GTF2H2B	TF binding region
ENSG00000269983	TF binding region

Extended variants
information (count: 161 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs202126299	chr5:69697992-69697993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2770554	chr5:69698035-69698036	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147672694	chr5:69698101-69698102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546489574	chr5:69698143-69698144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199499960	chr5:69698195-69698196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571387063	chr5:69698198-69698199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546409096	chr5:69698289-69698290	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200075777	chr5:69708295-69708296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2576908	chr5:69709684-69709685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75940579	chr5:69711410-69711411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183085846	chr5:69714630-69714631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544641956	chr5:69714637-69714638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561663403	chr5:69714780-69714781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs162959	chr5:69730040-69730041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369710412	chr5:69730060-69730061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374166345	chr5:69730061-69730062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542277748	chr5:69730101-69730102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560309346	chr5:69730535-69730536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527665863	chr5:69730574-69730575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540190388	chr5:69730621-69730622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565166103	chr5:69730630-69730631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532391605	chr5:69730638-69730639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113946828	chr5:69730655-69730656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189881023	chr5:69730662-69730663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550795344	chr5:69730680-69730681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569032542	chr5:69730691-69730692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529829837	chr5:69730692-69730693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548238596	chr5:69730706-69730707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566372366	chr5:69730745-69730746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201304231	chr5:69730786-69730787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533775031	chr5:69730822-69730823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150151999	chr5:69731407-69731408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62371808	chr5:69732068-69732069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559035040	chr5:69732256-69732257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570813514	chr5:69732271-69732272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532525452	chr5:69732299-69732300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200609467	chr5:69732470-69732471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559587515	chr5:69733097-69733098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538109565	chr5:69733102-69733103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556356955	chr5:69733283-69733284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574666645	chr5:69733460-69733461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs78077434	chr5:69733811-69733812	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs541989489	chr5:69733818-69733819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374579489	chr5:69734769-69734770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56237803	chr5:69734825-69734826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554221360	chr5:69734927-69734928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116401657	chr5:69734934-69734935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs154420	chr5:69734947-69734948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368777271	chr5:69735127-69735128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572386468	chr5:69735199-69735200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69697000-69698200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:69697000-69698200	Active TSS	Muscle Satellite Cultured Cells	--
3	chr5:69697000-69698200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:69697000-69698400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:69697000-69698400	Active TSS	Fetal Thymus	thymus
6	chr5:69698200-69698400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:69698200-69698400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:69699000-69699200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:69699600-69699800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:69729400-69738200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:69729400-69739800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:69729400-69745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:69729600-69740000	Weak transcription	Liver	Liver
14	chr5:69731800-69738000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:69734200-69740000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:69734200-69745000	Weak transcription	Fetal Stomach	stomach
17	chr5:69734400-69740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:69734400-69740200	Weak transcription	Osteobl	bone
19	chr5:69734400-69740800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:69734400-69741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:69734400-69744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:69734600-69745000	Weak transcription	Fetal Intestine Small	intestine
23	chr5:69734800-69745000	Weak transcription	Fetal Thymus	thymus
24	chr5:69735800-69736200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:69735800-69736200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:69735800-69738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:69736000-69738600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:69736200-69738200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:69736200-69740400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:69736400-69738200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:69736600-69738200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:69736600-69738200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:69737200-69739600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:69737200-69739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:69737400-69739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:69737400-69739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:69737400-69739800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:69738000-69738800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:69738200-69738800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:69738200-69738800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:69738200-69738800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:69738200-69738800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:69738200-69739800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:69738800-69740400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:69738800-69740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:69738800-69741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:69738800-69744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:69738800-69748800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:69739800-69741400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:69748800-69749000	Enhancers	Primary neutrophils fromperipheralblood	blood

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