Variant report

Variant	nsv885954
Chromosome Location	chr6:57836404-58144557
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	chr6:58142472-58142715	K562	blood:	n/a	n/a
3	ATF3	chr6:58141691-58142004	K562	blood:	n/a	n/a
4	ATF3	chr6:58142478-58142721	A549	lung:	n/a	n/a
5	CEBPB	chr6:57837128-57837338	HepG2	liver:	n/a	chr6:57837142-57837155
6	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
7	CEBPB	chr6:57837290-57837331	A549	lung:	n/a	n/a
8	CTCF	chr6:57903523-57903562	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr6:57903820-57904051	Pancreas_OC	pancreas:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
10	CTCF	chr6:57903814-57904044	HUVEC	blood vessel:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
11	CTCF	chr6:57903660-57903810	HVMF	connective:	n/a	n/a
12	CTCF	chr6:57903660-57903810	GM12873	blood:	n/a	n/a
13	CTCF	chr6:57903700-57903850	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr6:58073423-58073477	Fibrobl	skin:	n/a	n/a
15	CTCF	chr6:57903866-57904067	GM10248	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
16	CTCF	chr6:58060036-58060088	LNCaP	prostate:	n/a	n/a
17	CTCF	chr6:57903820-57904035	Hela-S3	cervix:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
18	CTCF	chr6:57903810-57904008	MCF-7	breast:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
19	CTCF	chr6:57877140-57877247	Fibrobl	skin:	n/a	n/a
20	CTCF	chr6:57903901-57903912	Fibrobl	skin:	n/a	n/a
21	CTCF	chr6:57903946-57903972	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:57887584-57887602	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:57903680-57903830	HEK293	kidney:	n/a	n/a
24	CTCF	chr6:58074116-58074175	ProgFib	skin:	n/a	n/a
25	CTCF	chr6:58082567-58082591	GM10248	blood:	n/a	n/a
26	CTCF	chr6:57903680-57903830	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr6:57862026-57862072	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:57903819-57903974	A549	lung:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
29	CTCF	chr6:58025840-58025911	Medullo	brain:	n/a	n/a
30	CTCF	chr6:58142224-58142294	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:57903680-57903830	BJ	skin:	n/a	n/a
32	CTCF	chr6:57903680-57903830	HMF	breast:	n/a	n/a
33	CTCF	chr6:57903680-57903830	BE2_C	brain:	n/a	n/a
34	CTCF	chr6:57903834-57903968	NHEK	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
35	CTCF	chr6:57944165-57944201	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr6:57976615-57976701	GM13977	blood:	n/a	n/a
37	CTCF	chr6:57903680-57903830	GM12870	blood:	n/a	n/a
38	CTCF	chr6:57964797-57964883	GM10248	blood:	n/a	n/a
39	CTCF	chr6:57903680-57903830	SAEC	small airway:	n/a	n/a
40	CTCF	chr6:57903827-57903985	ProgFib	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
41	CTCF	chr6:57903824-57904064	K562	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
42	CTCF	chr6:58032301-58032319	HepG2	liver:	n/a	n/a
43	CTCF	chr6:57880395-57880518	NHEK	skin:	n/a	n/a
44	CTCF	chr6:58047077-58047104	Lung_OC	lung:	n/a	n/a
45	CTCF	chr6:57903807-57904061	Medullo	brain:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
46	CTCF	chr6:58021630-58021707	Medullo	brain:	n/a	n/a
47	CTCF	chr6:57903580-57903730	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr6:57903680-57903830	HMEC	breast:	n/a	n/a
49	CTCF	chr6:57903826-57904041	GM13977	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
50	CTCF	chr6:58078687-58078728	Kidney_OC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57970666-57970716	HepG2	liver:	n/a
2	chr6:57970666-57970716	HepG2	liver:	n/a
3	chr6:57972349-57972399	Caco-2	colon:	n/a
4	chr6:57970592-57970642	SK-N-SH_RA	brain:	n/a
5	chr6:57970592-57970642	LNCaP	prostate:	n/a
6	chr6:57972721-57972771	GM06990	blood:	n/a
7	chr6:57970592-57970642	PANC-1	pancreas:	n/a
8	chr6:57912662-57912712	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:57972349-57972399	PANC-1	pancreas:	n/a
10	chr6:57972349-57972399	AG10803	skin:	n/a
11	chr6:57970592-57970642	BE2_C	brain:	n/a
12	chr6:57972721-57972771	Caco-2	colon:	n/a
13	chr6:57972223-57972273	ProgFib	skin:	n/a
14	chr6:57972680-57972730	HCM	heart:	n/a
15	chr6:57972680-57972730	SK-N-MC	brain:	n/a
16	chr6:57972349-57972399	U87	brain:	n/a
17	chr6:57972721-57972771	MCF10A-Er-Src	breast:	n/a
18	chr6:57972721-57972771	HCPEpiC	choroid plexus:	n/a
19	chr6:57970592-57970642	K562	blood:	n/a
20	chr6:57972680-57972730	SKMC	muscle:	n/a
21	chr6:57972721-57972771	PFSK-1	brain:	n/a
22	chr6:58142044-58142094	AG04450	lung:	fetal
23	chr6:57972349-57972399	GM12878	blood:	n/a
24	chr6:57912662-57912712	T-47D	breast:	n/a
25	chr6:57970666-57970716	NH-A	brain:	n/a
26	chr6:57972223-57972273	NB4	blood:	n/a
27	chr6:57972223-57972273	NHDF-neo	bronchial:	n/a
28	chr6:57970592-57970642	HCPEpiC	choroid plexus:	n/a
29	chr6:57972721-57972771	T-47D	breast:	n/a
30	chr6:58001971-58002021	Jurkat	blood:	n/a
31	chr6:58001971-58002021	SK-N-SH_RA	brain:	n/a
32	chr6:57970666-57970716	AG04449	skin:	fetal
33	chr6:58141890-58141940	HMEC	breast:	n/a
34	chr6:57972349-57972399	RPTEC	kidney:	n/a
35	chr6:57972223-57972273	IMR90	lung:	fetal
36	chr6:58142044-58142094	HIPEpiC	eye:	n/a
37	chr6:57970592-57970642	HRCEpiC	kidney:	n/a
38	chr6:57972223-57972273	GM12892	blood:	n/a
39	chr6:57970666-57970716	CMK	blood:	n/a
40	chr6:57970592-57970642	NH-A	brain:	n/a
41	chr6:58142044-58142094	T-47D	breast:	n/a
42	chr6:57972721-57972771	GM19239	blood:	n/a
43	chr6:57912662-57912712	HCM	heart:	n/a
44	chr6:57972223-57972273	NT2-D1	testis:	n/a
45	chr6:57970592-57970642	AG04450	lung:	fetal
46	chr6:58142044-58142094	SK-N-SH	brain:	n/a
47	chr6:57912662-57912712	K562	blood:	n/a
48	chr6:57970666-57970716	BE2_C	brain:	n/a
49	chr6:57912662-57912712	IMR90	lung:	fetal
50	chr6:58001971-58002021	NB4	blood:	n/a

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

Extended variants
information (count: 1287 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4425587	chr6:57836404-57836405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573959783	chr6:57836434-57836435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544244409	chr6:57836444-57836445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562862417	chr6:57836496-57836497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533399126	chr6:57836501-57836502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545205665	chr6:57836510-57836511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186387138	chr6:57836515-57836516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371671662	chr6:57836524-57836525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528220727	chr6:57836645-57836646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374989088	chr6:57836693-57836694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546659605	chr6:57836706-57836707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368406884	chr6:57836707-57836708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9476351	chr6:57836715-57836716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs191921888	chr6:57836757-57836758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9476352	chr6:57836774-57836775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs569186344	chr6:57836818-57836819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142970572	chr6:57836821-57836822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144803639	chr6:57836849-57836850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62412370	chr6:57836851-57836852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143380171	chr6:57836932-57836933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558033458	chr6:57836933-57836934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9476353	chr6:57836938-57836939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs534070205	chr6:57836939-57836940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555847944	chr6:57836970-57836971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574024961	chr6:57836985-57836986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375094681	chr6:57836987-57836988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369649546	chr6:57836991-57836992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183021979	chr6:57837181-57837182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187586549	chr6:57837188-57837189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545293776	chr6:57837194-57837195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190850825	chr6:57837235-57837236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547932051	chr6:57837237-57837238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527901735	chr6:57837241-57837242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374957188	chr6:57837244-57837245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559717113	chr6:57837247-57837248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561824331	chr6:57837249-57837250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183046590	chr6:57837351-57837352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550634269	chr6:57837369-57837370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187048147	chr6:57837370-57837371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192241662	chr6:57837372-57837373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184446315	chr6:57837373-57837374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188026747	chr6:57837375-57837376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193083112	chr6:57837382-57837383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534016088	chr6:57837383-57837384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548859612	chr6:57837458-57837459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531852309	chr6:57837459-57837460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200025200	chr6:57837504-57837505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58841445	chr6:57837519-57837520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537945054	chr6:57837550-57837551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557858453	chr6:57837608-57837609	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57833600-57838600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:57835400-57849000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:57835600-57838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:57835600-57838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:57836000-57838800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:57838600-57839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:57838600-57839600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:57838800-57839000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:57838800-57839200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:57838800-57839400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:57842800-57843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:57843000-57843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:57843200-57846400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:57845200-57848000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:57846200-57846600	Enhancers	Fetal Intestine Large	intestine
16	chr6:57846400-57847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:57846600-57846800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:57846600-57849200	Weak transcription	Fetal Intestine Large	intestine
19	chr6:57846800-57847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:57846800-57848000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:57847000-57849000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:57847200-57849000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:57848000-57850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:57849000-57849400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:57849000-57849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:57849000-57850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:57849200-57849800	Enhancers	Fetal Intestine Large	intestine
28	chr6:57849800-57850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:57850200-57850800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:57850800-57851000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:57850800-57851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:57850800-57851000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:57850800-57851000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:57892200-57892800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:57892400-57892800	Enhancers	Fetal Intestine Small	intestine
36	chr6:57900400-57900800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:57900800-57902000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:57902000-57902400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:57902000-57902400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:57912400-57912800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr6:57913800-57915200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:57914000-57915400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:57914000-57915400	Enhancers	NHEK	skin
44	chr6:57915200-57915400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:57915400-57916200	Active TSS	NHEK	skin
48	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:57916200-57917600	Weak transcription	NHEK	skin

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