Variant report

Variant	nsv885953
Chromosome Location	chr6:57797552-58144557
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	ATF1	chr6:57996881-57996935	K562	blood:	n/a	n/a
2	ATF3	chr6:58142478-58142721	A549	lung:	n/a	n/a
3	ATF3	chr6:58142472-58142715	K562	blood:	n/a	n/a
4	ATF3	chr6:58141691-58142004	K562	blood:	n/a	n/a
5	CEBPB	chr6:58030489-58030521	HepG2	liver:	n/a	chr6:58030490-58030499 chr6:58030490-58030501 chr6:58030490-58030499 chr6:58030490-58030499 chr6:58030490-58030501 chr6:58030490-58030499
6	CEBPB	chr6:57813456-57813566	A549	lung:	n/a	chr6:57813503-57813514
7	CEBPB	chr6:57835893-57836113	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr6:57813363-57813589	HepG2	liver:	n/a	chr6:57813503-57813514
9	CEBPB	chr6:57837128-57837338	HepG2	liver:	n/a	chr6:57837142-57837155
10	CEBPB	chr6:57837290-57837331	A549	lung:	n/a	n/a
11	CEBPB	chr6:57813381-57813566	IMR90	lung:	n/a	chr6:57813503-57813514
12	CTCF	chr6:57811442-57811630	NHEK	skin:	n/a	n/a
13	CTCF	chr6:57903680-57903830	BE2_C	brain:	n/a	n/a
14	CTCF	chr6:57832685-57832716	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr6:57811440-57811590	NB4	blood:	n/a	n/a
16	CTCF	chr6:57812138-57812204	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr6:57811420-57811570	HEK293	kidney:	n/a	chr6:57811427-57811440
18	CTCF	chr6:57811475-57811602	Gliobla	brain:	n/a	n/a
19	CTCF	chr6:57811193-57811206	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr6:57811529-57811590	HepG2	liver:	n/a	n/a
21	CTCF	chr6:57903680-57903830	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:57811483-57811592	ProgFib	skin:	n/a	n/a
23	CTCF	chr6:57903680-57903830	BJ	skin:	n/a	n/a
24	CTCF	chr6:57983763-57983815	GM20000	blood:	n/a	n/a
25	CTCF	chr6:58032451-58032505	GM10266	blood:	n/a	n/a
26	CTCF	chr6:57903819-57903974	A549	lung:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
27	CTCF	chr6:57903855-57904044	Spleen_OC	spleen:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
28	CTCF	chr6:57903787-57904046	MCF-7	breast:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
29	CTCF	chr6:57811510-57811560	Fibrobl	skin:	n/a	n/a
30	CTCF	chr6:57903837-57903982	GM10266	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
31	CTCF	chr6:57903820-57904035	Hela-S3	cervix:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
32	CTCF	chr6:57903680-57903830	SAEC	small airway:	n/a	n/a
33	CTCF	chr6:57811506-57811607	GM13977	blood:	n/a	n/a
34	CTCF	chr6:57903680-57903830	HRE	kidney:	n/a	n/a
35	CTCF	chr6:57811451-57811644	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:57903820-57904051	Pancreas_OC	pancreas:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
37	CTCF	chr6:57903766-57904025	Gliobla	brain:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
38	CTCF	chr6:57981484-57981502	GM20000	blood:	n/a	n/a
39	CTCF	chr6:57903580-57903730	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr6:57811475-57811593	GM12891	blood:	n/a	n/a
41	CTCF	chr6:57811436-57811676	LNCaP	prostate:	n/a	n/a
42	CTCF	chr6:57903805-57904023	GM12878	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
43	CTCF	chr6:57903901-57903912	Fibrobl	skin:	n/a	n/a
44	CTCF	chr6:57811420-57811570	WERI-Rb-1	eye:	n/a	chr6:57811427-57811440
45	CTCF	chr6:57903834-57903968	NHEK	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
46	CTCF	chr6:57811420-57811570	NHEK	skin:	n/a	chr6:57811427-57811440
47	CTCF	chr6:57811220-57811370	NHEK	skin:	n/a	n/a
48	CTCF	chr6:57811420-57811570	Caco-2	colon:	n/a	chr6:57811427-57811440
49	CTCF	chr6:57903815-57903996	HepG2	liver:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
50	CTCF	chr6:57903946-57903972	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58001971-58002021	Caco-2	colon:	n/a
2	chr6:58142044-58142094	AG04449	skin:	fetal
3	chr6:58142044-58142094	K562	blood:	n/a
4	chr6:58142044-58142094	ECC-1	luminal epithelium:	n/a
5	chr6:58001971-58002021	Caco-2	colon:	n/a
6	chr6:58142044-58142094	AG04449	skin:	fetal
7	chr6:58142044-58142094	K562	blood:	n/a
8	chr6:58142044-58142094	ECC-1	luminal epithelium:	n/a
9	chr6:58141890-58141940	SK-N-MC	brain:	n/a
10	chr6:57972349-57972399	SK-N-MC	brain:	n/a
11	chr6:58141890-58141940	HMEC	breast:	n/a
12	chr6:58141890-58141940	SK-N-SH	brain:	n/a
13	chr6:57972349-57972399	HNPCEpiC	eye:	n/a
14	chr6:57972223-57972273	GM12891	blood:	n/a
15	chr6:58001971-58002021	HNPCEpiC	eye:	n/a
16	chr6:58142044-58142094	Jurkat	blood:	n/a
17	chr6:57912662-57912712	HCF	heart:	n/a
18	chr6:58141890-58141940	GM12892	blood:	n/a
19	chr6:57972223-57972273	PFSK-1	brain:	n/a
20	chr6:57912662-57912712	PrEC	prostate:	n/a
21	chr6:57972223-57972273	A549	lung:	n/a
22	chr6:57970592-57970642	NT2-D1	testis:	n/a
23	chr6:58001971-58002021	BE2_C	brain:	n/a
24	chr6:58001971-58002021	U87	brain:	n/a
25	chr6:57970592-57970642	HNPCEpiC	eye:	n/a
26	chr6:58001971-58002021	HCM	heart:	n/a
27	chr6:58141890-58141940	Hepatocyte	liver:	n/a
28	chr6:57972223-57972273	RPTEC	kidney:	n/a
29	chr6:57970592-57970642	AoSMC	blood vessel:	n/a
30	chr6:57912662-57912712	MCF10A-Er-Src	breast:	n/a
31	chr6:58142044-58142094	HRE	kidney:	n/a
32	chr6:57972721-57972771	SK-N-MC	brain:	n/a
33	chr6:57970592-57970642	ECC-1	luminal epithelium:	n/a
34	chr6:57972721-57972771	SK-N-SH_RA	brain:	n/a
35	chr6:57970592-57970642	HEEpiC	esophagus:	n/a
36	chr6:57972223-57972273	HMEC	breast:	n/a
37	chr6:58001971-58002021	A549	lung:	n/a
38	chr6:57972721-57972771	NT2-D1	testis:	n/a
39	chr6:57972721-57972771	Hela-S3	cervix:	n/a
40	chr6:57972680-57972730	HepG2	liver:	n/a
41	chr6:58001971-58002021	SK-N-SH_RA	brain:	n/a
42	chr6:57970666-57970716	AG04449	skin:	fetal
43	chr6:57972721-57972771	K562	blood:	n/a
44	chr6:57972223-57972273	U87	brain:	n/a
45	chr6:57972680-57972730	HAEpiC	amniotic membrane:	n/a
46	chr6:58141890-58141940	BE2_C	brain:	n/a
47	chr6:57970666-57970716	HEEpiC	esophagus:	n/a
48	chr6:58141890-58141940	MCF10A-Er-Src	breast:	n/a
49	chr6:58141890-58141940	PrEC	prostate:	n/a
50	chr6:57972349-57972399	HRPEpiC	eye:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAG2-11	chr6:57799352-57799604	NONHSAT113302
2	lnc-BAG2-11	chr6:57798854-57798915	NONHSAT113302

Variant related genes	Relation type
ENSG00000270213	TF binding region
ENSG00000262828	TF binding region
RBBP4P3	TF binding region
ENSG00000270213	CpG island
ENSG00000262828	CpG island
RBBP4P3	CpG island

Extended variants
information (count: 1570 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1570 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577643342	chr6:57798429-57798430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532663499	chr6:57798856-57798857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs4626425	chr6:57798881-57798882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571420260	chr6:57798887-57798888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs540440991	chr6:57799400-57799401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191080126	chr6:57799430-57799431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs183264210	chr6:57799481-57799482	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369821174	chr6:57799489-57799490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs543327215	chr6:57799508-57799509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs565106343	chr6:57799514-57799515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs576924476	chr6:57799573-57799574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541519562	chr6:57799579-57799580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs530448762	chr6:57808406-57808407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192468245	chr6:57808415-57808416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563703371	chr6:57808474-57808475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182090509	chr6:57808476-57808477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3000419	chr6:57808478-57808479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568210506	chr6:57808479-57808480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3000418	chr6:57808493-57808494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568211328	chr6:57808505-57808506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9464591	chr6:57808534-57808535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs200460809	chr6:57808574-57808575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550830405	chr6:57808579-57808580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201153784	chr6:57808601-57808602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576731087	chr6:57808628-57808629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569312974	chr6:57808658-57808659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187196674	chr6:57808664-57808665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139672504	chr6:57808686-57808687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566834289	chr6:57808754-57808755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6908740	chr6:57808823-57808824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189879280	chr6:57808848-57808849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574183528	chr6:57808901-57808902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375459883	chr6:57808910-57808911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367812067	chr6:57808928-57808929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544767404	chr6:57809042-57809043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144707295	chr6:57809046-57809047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558783177	chr6:57809072-57809073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572392899	chr6:57809077-57809078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559864571	chr6:57809097-57809098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528560382	chr6:57809106-57809107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12662395	chr6:57809136-57809137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371454053	chr6:57809169-57809170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541271787	chr6:57809215-57809216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548671784	chr6:57809233-57809234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148545895	chr6:57809244-57809245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563742082	chr6:57809254-57809255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374668433	chr6:57809268-57809269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182136946	chr6:57809286-57809287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144091928	chr6:57809290-57809291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562001286	chr6:57809327-57809328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57808400-57808800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:57808800-57810400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:57810400-57812000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:57810400-57812000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:57810600-57811400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:57810600-57812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:57810600-57812000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:57811200-57812000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:57832800-57833600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:57833600-57838600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:57835000-57835400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:57835000-57835600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:57835000-57835600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:57835000-57835600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:57835000-57836000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:57835400-57836000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:57835400-57849000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:57835600-57838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:57835600-57838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:57836000-57838800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:57838600-57839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:57838600-57839600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:57838800-57839000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:57838800-57839200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:57838800-57839400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:57842800-57843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:57843000-57843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:57843200-57846400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:57845200-57848000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:57846200-57846600	Enhancers	Fetal Intestine Large	intestine
31	chr6:57846400-57847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:57846600-57846800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:57846600-57849200	Weak transcription	Fetal Intestine Large	intestine
34	chr6:57846800-57847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:57846800-57848000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:57847000-57849000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:57847200-57849000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:57848000-57850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:57849000-57849400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:57849000-57849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:57849000-57850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:57849200-57849800	Enhancers	Fetal Intestine Large	intestine
43	chr6:57849800-57850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:57850200-57850800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:57850800-57851000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:57850800-57851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:57850800-57851000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:57850800-57851000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:57892200-57892800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:57892400-57892800	Enhancers	Fetal Intestine Small	intestine

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