Variant report

Variant	nsv882174
Chromosome Location	chr5:70576973-70679626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1151)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:70586985-70587016	HepG2	liver:	n/a	n/a
2	BATF	chr5:70585691-70586274	GM12878	blood:	n/a	n/a
3	BATF	chr5:70582297-70582527	GM12878	blood:	n/a	n/a
4	BATF	chr5:70580342-70580785	GM12878	blood:	n/a	n/a
5	BATF	chr5:70597986-70598270	GM12878	blood:	n/a	n/a
6	BATF	chr5:70582281-70582533	GM12878	blood:	n/a	n/a
7	BATF	chr5:70600720-70600924	GM12878	blood:	n/a	n/a
8	BATF	chr5:70582923-70583350	GM12878	blood:	n/a	n/a
9	BATF	chr5:70606094-70606336	GM12878	blood:	n/a	chr5:70606171-70606182
10	BATF	chr5:70585975-70586260	GM12878	blood:	n/a	n/a
11	BATF	chr5:70578302-70579195	GM12878	blood:	n/a	n/a
12	BATF	chr5:70580375-70580726	GM12878	blood:	n/a	n/a
13	BATF	chr5:70586371-70586849	GM12878	blood:	n/a	n/a
14	BATF	chr5:70583794-70584001	GM12878	blood:	n/a	n/a
15	BATF	chr5:70581822-70582238	GM12878	blood:	n/a	n/a
16	BATF	chr5:70581590-70581807	GM12878	blood:	n/a	n/a
17	BATF	chr5:70616798-70617022	GM12878	blood:	n/a	n/a
18	BATF	chr5:70584431-70584744	GM12878	blood:	n/a	n/a
19	BATF	chr5:70598063-70598280	GM12878	blood:	n/a	n/a
20	BATF	chr5:70602705-70602934	GM12878	blood:	n/a	n/a
21	BATF	chr5:70590289-70590572	GM12878	blood:	n/a	chr5:70590466-70590476
22	BATF	chr5:70585042-70585622	GM12878	blood:	n/a	n/a
23	BATF	chr5:70583052-70583325	GM12878	blood:	n/a	n/a
24	BATF	chr5:70601668-70601918	GM12878	blood:	n/a	n/a
25	BATF	chr5:70584401-70584705	GM12878	blood:	n/a	n/a
26	BATF	chr5:70586369-70587093	GM12878	blood:	n/a	n/a
27	BATF	chr5:70578359-70578809	GM12878	blood:	n/a	n/a
28	BATF	chr5:70624925-70625151	GM12878	blood:	n/a	n/a
29	BATF	chr5:70609718-70609921	GM12878	blood:	n/a	n/a
30	BATF	chr5:70585008-70585657	GM12878	blood:	n/a	n/a
31	BATF	chr5:70590285-70590560	GM12878	blood:	n/a	chr5:70590466-70590476
32	BCL11A	chr5:70597532-70597699	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:70620152-70620315	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:70581317-70581787	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:70578303-70579179	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:70584997-70586231	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:70606135-70606342	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:70590295-70590567	GM12878	blood:	n/a	chr5:70590468-70590477 chr5:70590469-70590478
39	BCL11A	chr5:70580478-70580655	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:70583600-70583799	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:70613462-70613645	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:70584340-70587089	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:70602675-70602971	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:70606153-70606352	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:70582939-70583333	GM12878	blood:	n/a	n/a
46	BCL11A	chr5:70614344-70614558	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:70598066-70598232	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:70605837-70606069	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:70598038-70598363	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:70582236-70582578	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70670374-70670424	NHBE	bronchial:	n/a
2	chr5:70670374-70670424	HL-60	blood:	n/a
3	chr5:70671179-70671229	SK-N-MC	brain:	n/a
4	chr5:70671179-70671229	RPTEC	kidney:	n/a
5	chr5:70671179-70671229	AG04449	skin:	fetal
6	chr5:70671764-70671814	SK-N-MC	brain:	n/a
7	chr5:70670374-70670424	HepG2	liver:	n/a
8	chr5:70670374-70670424	ECC-1	luminal epithelium:	n/a
9	chr5:70671764-70671814	SK-N-SH_RA	brain:	n/a
10	chr5:70671179-70671229	CMK	blood:	n/a
11	chr5:70671764-70671814	IMR90	lung:	fetal
12	chr5:70670374-70670424	PrEC	prostate:	n/a
13	chr5:70671179-70671229	A549	lung:	n/a
14	chr5:70670374-70670424	HCM	heart:	n/a
15	chr5:70671764-70671814	NHDF-neo	bronchial:	n/a
16	chr5:70671764-70671814	MCF-7	breast:	n/a
17	chr5:70671764-70671814	ECC-1	luminal epithelium:	n/a
18	chr5:70671179-70671229	IMR90	lung:	fetal
19	chr5:70670374-70670424	ovcar-3	ovarian:	n/a
20	chr5:70671764-70671814	Hepatocyte	liver:	n/a
21	chr5:70670374-70670424	Hepatocyte	liver:	n/a
22	chr5:70671179-70671229	HUVEC	blood vessel:	n/a
23	chr5:70671179-70671229	HIPEpiC	eye:	n/a
24	chr5:70671764-70671814	CMK	blood:	n/a
25	chr5:70671764-70671814	MCF10A-Er-Src	breast:	n/a
26	chr5:70671179-70671229	HEEpiC	esophagus:	n/a
27	chr5:70671764-70671814	AG04449	skin:	fetal
28	chr5:70671764-70671814	H1-hESC	embryonic stem cell:	embryo
29	chr5:70671764-70671814	ovcar-3	ovarian:	n/a
30	chr5:70671179-70671229	SAEC	small airway:	n/a
31	chr5:70670374-70670424	HAEpiC	amniotic membrane:	n/a
32	chr5:70671764-70671814	BE2_C	brain:	n/a
33	chr5:70671179-70671229	ovcar-3	ovarian:	n/a
34	chr5:70671764-70671814	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:70671764-70671814	SK-N-SH	brain:	n/a
36	chr5:70670374-70670424	PANC-1	pancreas:	n/a
37	chr5:70670374-70670424	NB4	blood:	n/a
38	chr5:70670374-70670424	AG04449	skin:	fetal
39	chr5:70670374-70670424	GM12878	blood:	n/a
40	chr5:70671764-70671814	HepG2	liver:	n/a
41	chr5:70671764-70671814	NT2-D1	testis:	n/a
42	chr5:70671764-70671814	HEK293	kidney:	embryo
43	chr5:70671179-70671229	HMEC	breast:	n/a
44	chr5:70670374-70670424	NH-A	brain:	n/a
45	chr5:70671764-70671814	GM19239	blood:	n/a
46	chr5:70670374-70670424	HUVEC	blood vessel:	n/a
47	chr5:70671764-70671814	GM12878	blood:	n/a
48	chr5:70670374-70670424	GM19239	blood:	n/a
49	chr5:70670374-70670424	NHDF-neo	bronchial:	n/a
50	chr5:70670374-70670424	HPAEpiC	pulmonary alveolar:	n/a

No data

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-2	chr5:70670423-70670509	ENSG00000253985
2	lnc-GTF2H2-2	chr5:70670666-70670725	ENSG00000253985
3	lnc-BDP1-4	chr5:70671612-70671843	NONHSAT102017
4	lnc-BDP1-4	chr5:70673333-70673407	NONHSAT102014
5	lnc-BDP1-4	chr5:70671612-70671843	NONHSAT102016
6	lnc-BDP1-4	chr5:70674302-70674445	NONHSAT102014
7	lnc-BDP1-4	chr5:70673333-70673407	NONHSAT102017
8	lnc-BDP1-4	chr5:70671612-70671843	NONHSAT102014
9	lnc-BDP1-4	chr5:70673333-70673407	NONHSAT102015
10	lnc-BDP1-4	chr5:70672114-70673407	NONHSAT102018
11	lnc-BDP1-4	chr5:70674302-70674445	NONHSAT102017
12	lnc-GTF2H2-3	chr5:70649314-70649750	ENSG00000250387
13	lnc-BDP1-4	chr5:70671613-70671843	NONHSAT102018
14	lnc-GTF2H2-3	chr5:70647682-70649750	ENSG00000250387
15	lnc-BDP1-4	chr5:70671612-70671843	NONHSAT102015
16	lnc-GTF2H2-3	chr5:70647682-70649750	NONHSAT102012
17	lnc-GTF2H2-2	chr5:70668503-70668856	ENSG00000253985
18	lnc-BDP1-4	chr5:70674302-70674445	NONHSAT102015
19	lnc-BDP1-4	chr5:70672114-70673407	NONHSAT102016
20	lnc-BDP1-4	chr5:70674302-70675060	NONHSAT102019
21	lnc-BDP1-4	chr5:70673331-70673407	NONHSAT102019

No data

Variant related genes	Relation type
ENSG00000253985	TF binding region
GUSBP9	TF binding region
PMCHL2	TF binding region
ENSG00000253985	CpG island
GUSBP9	CpG island
PMCHL2	CpG island

Extended variants
information (count: 256 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62372717	chr5:70585916-70585917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201340772	chr5:70587241-70587242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532957000	chr5:70587441-70587442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368177737	chr5:70587442-70587443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368562135	chr5:70587458-70587459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201142766	chr5:70588288-70588289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201313040	chr5:70588342-70588343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535289660	chr5:70590274-70590275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373680353	chr5:70647702-70647703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs10055600	chr5:70647901-70647902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541983619	chr5:70648521-70648522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546829933	chr5:70648565-70648566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs554313404	chr5:70648570-70648571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs10064514	chr5:70648858-70648859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572692104	chr5:70648874-70648875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs377634262	chr5:70649077-70649078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs58855038	chr5:70649403-70649404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201949888	chr5:70649404-70649405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7702814	chr5:70649421-70649422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551264439	chr5:70663248-70663249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568711469	chr5:70663320-70663321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536240589	chr5:70663328-70663329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547916433	chr5:70663419-70663420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566554905	chr5:70663494-70663495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533899559	chr5:70663513-70663514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558754760	chr5:70663551-70663552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532389145	chr5:70663556-70663557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570678126	chr5:70663570-70663571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537710639	chr5:70663601-70663602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187041462	chr5:70663669-70663670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141996099	chr5:70663683-70663684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192955029	chr5:70663719-70663720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372431249	chr5:70663739-70663740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200931420	chr5:70663780-70663781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562436594	chr5:70663870-70663871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554578577	chr5:70663917-70663918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572979350	chr5:70663925-70663926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540345069	chr5:70663985-70663986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565096719	chr5:70664226-70664227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532742451	chr5:70664427-70664428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544525028	chr5:70664429-70664430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550792831	chr5:70664446-70664447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563185836	chr5:70664453-70664454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148319299	chr5:70664503-70664504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376634147	chr5:70664555-70664556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530358845	chr5:70664645-70664646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10057058	chr5:70664663-70664664	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs566494322	chr5:70664689-70664690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562606858	chr5:70664698-70664699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529715760	chr5:70664699-70664700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70663200-70663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:70663400-70664600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:70663600-70664000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:70664000-70664600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:70664200-70664600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:70664600-70669200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:70667400-70667600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:70667600-70668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:70668400-70670200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:70668600-70669200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:70669200-70669800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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