Variant report

Variant	nsv885957
Chromosome Location	chr6:57894896-58144557
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	CTCF	chr6:57903680-57903830	SAEC	small airway:	n/a	n/a
7	CTCF	chr6:57903580-57903730	HMEC	breast:	n/a	n/a
8	CTCF	chr6:57903814-57904044	HUVEC	blood vessel:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
9	CTCF	chr6:58142480-58142630	HEK293	kidney:	n/a	n/a
10	CTCF	chr6:57903819-57903974	A549	lung:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
11	CTCF	chr6:58047077-58047104	Lung_OC	lung:	n/a	n/a
12	CTCF	chr6:57944165-57944201	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr6:57903807-57904072	LNCaP	prostate:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
14	CTCF	chr6:58060413-58060476	GM10248	blood:	n/a	n/a
15	CTCF	chr6:58074116-58074175	ProgFib	skin:	n/a	n/a
16	CTCF	chr6:57903833-57904036	Kidney_OC	kidney:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
17	CTCF	chr6:57903820-57904035	Hela-S3	cervix:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
18	CTCF	chr6:58060036-58060088	LNCaP	prostate:	n/a	n/a
19	CTCF	chr6:57903680-57903830	HRE	kidney:	n/a	n/a
20	CTCF	chr6:57903660-57903810	GM12873	blood:	n/a	n/a
21	CTCF	chr6:58073423-58073477	Fibrobl	skin:	n/a	n/a
22	CTCF	chr6:57903680-57903830	RPTEC	kidney:	n/a	n/a
23	CTCF	chr6:57903680-57903830	BJ	skin:	n/a	n/a
24	CTCF	chr6:57903680-57903830	HMF	breast:	n/a	n/a
25	CTCF	chr6:57903820-57904051	Pancreas_OC	pancreas:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
26	CTCF	chr6:57903680-57903830	HMEC	breast:	n/a	n/a
27	CTCF	chr6:58078687-58078728	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr6:57903883-57903995	GM13976	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
29	CTCF	chr6:57903834-57903968	NHEK	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
30	CTCF	chr6:58081118-58081160	Medullo	brain:	n/a	n/a
31	CTCF	chr6:58032301-58032319	HepG2	liver:	n/a	n/a
32	CTCF	chr6:58082567-58082591	GM10248	blood:	n/a	n/a
33	CTCF	chr6:57903680-57903830	HCFaa	heart:	n/a	n/a
34	CTCF	chr6:57903826-57904041	GM13977	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
35	CTCF	chr6:57903901-57903912	Fibrobl	skin:	n/a	n/a
36	CTCF	chr6:57903824-57904064	K562	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
37	CTCF	chr6:57964797-57964883	GM10248	blood:	n/a	n/a
38	CTCF	chr6:57903680-57903830	BE2_C	brain:	n/a	n/a
39	CTCF	chr6:57903805-57904023	GM12878	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
40	CTCF	chr6:57903827-57903985	ProgFib	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
41	CTCF	chr6:57981484-57981502	GM20000	blood:	n/a	n/a
42	CTCF	chr6:57976615-57976701	GM13977	blood:	n/a	n/a
43	CTCF	chr6:57903660-57903810	HVMF	connective:	n/a	n/a
44	CTCF	chr6:57903766-57904025	Gliobla	brain:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
45	CTCF	chr6:57903837-57903982	GM10266	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
46	CTCF	chr6:58021630-58021707	Medullo	brain:	n/a	n/a
47	CTCF	chr6:57983763-57983815	GM20000	blood:	n/a	n/a
48	CTCF	chr6:57903680-57903830	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr6:57903580-57903730	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr6:57903680-57903830	GM12870	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58001971-58002021	IMR90	lung:	fetal
2	chr6:58001971-58002021	IMR90	lung:	fetal
3	chr6:57972349-57972399	HRCEpiC	kidney:	n/a
4	chr6:58142044-58142094	BJ	skin:	n/a
5	chr6:58001971-58002021	K562	blood:	n/a
6	chr6:57970592-57970642	PrEC	prostate:	n/a
7	chr6:58141890-58141940	SK-N-SH	brain:	n/a
8	chr6:57972349-57972399	AG04450	lung:	fetal
9	chr6:57972721-57972771	GM12878	blood:	n/a
10	chr6:57972223-57972273	HEK293	kidney:	embryo
11	chr6:58142044-58142094	GM12891	blood:	n/a
12	chr6:58001971-58002021	Caco-2	colon:	n/a
13	chr6:57972223-57972273	AG04450	lung:	fetal
14	chr6:57972349-57972399	ProgFib	skin:	n/a
15	chr6:58141890-58141940	HRCEpiC	kidney:	n/a
16	chr6:57912662-57912712	H1-hESC	embryonic stem cell:	embryo
17	chr6:58141890-58141940	HCF	heart:	n/a
18	chr6:58142044-58142094	SAEC	small airway:	n/a
19	chr6:57972223-57972273	HCF	heart:	n/a
20	chr6:58141890-58141940	NB4	blood:	n/a
21	chr6:58142044-58142094	HepG2	liver:	n/a
22	chr6:57970666-57970716	AG04450	lung:	fetal
23	chr6:57972223-57972273	PFSK-1	brain:	n/a
24	chr6:57972349-57972399	HRPEpiC	eye:	n/a
25	chr6:57972680-57972730	RPTEC	kidney:	n/a
26	chr6:57970592-57970642	AG04449	skin:	fetal
27	chr6:57972721-57972771	ProgFib	skin:	n/a
28	chr6:58141890-58141940	AoSMC	blood vessel:	n/a
29	chr6:57972680-57972730	GM12878	blood:	n/a
30	chr6:57972223-57972273	ECC-1	luminal epithelium:	n/a
31	chr6:57972721-57972771	HMEC	breast:	n/a
32	chr6:57912662-57912712	HUVEC	blood vessel:	n/a
33	chr6:57972680-57972730	HNPCEpiC	eye:	n/a
34	chr6:58001971-58002021	HRE	kidney:	n/a
35	chr6:58001971-58002021	HMEC	breast:	n/a
36	chr6:57972349-57972399	SK-N-MC	brain:	n/a
37	chr6:57972223-57972273	NB4	blood:	n/a
38	chr6:57972721-57972771	NH-A	brain:	n/a
39	chr6:58001971-58002021	MCF-7	breast:	n/a
40	chr6:57972680-57972730	HL-60	blood:	n/a
41	chr6:57972349-57972399	HUVEC	blood vessel:	n/a
42	chr6:58142044-58142094	PrEC	prostate:	n/a
43	chr6:57912662-57912712	HMEC	breast:	n/a
44	chr6:57972721-57972771	H1-hESC	embryonic stem cell:	embryo
45	chr6:57970666-57970716	AG04449	skin:	fetal
46	chr6:58001971-58002021	HepG2	liver:	n/a
47	chr6:57970592-57970642	NB4	blood:	n/a
48	chr6:58001971-58002021	NHDF-neo	bronchial:	n/a
49	chr6:57972721-57972771	HepG2	liver:	n/a
50	chr6:58001971-58002021	NB4	blood:	n/a

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

Extended variants
information (count: 632 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543251686	chr6:57900428-57900429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3125386	chr6:57900443-57900444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142361763	chr6:57900456-57900457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116466618	chr6:57900488-57900489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3125387	chr6:57900493-57900494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3125388	chr6:57900499-57900500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73758405	chr6:57900506-57900507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187239311	chr6:57900659-57900660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3125390	chr6:57900694-57900695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574888748	chr6:57900717-57900718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545731732	chr6:57900734-57900735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3125391	chr6:57900739-57900740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564047505	chr6:57900740-57900741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115559369	chr6:57900745-57900746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3125392	chr6:57900748-57900749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3125393	chr6:57900758-57900759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73758406	chr6:57900767-57900768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561887082	chr6:57900831-57900832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529402289	chr6:57900848-57900849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551034018	chr6:57900865-57900866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562918494	chr6:57900868-57900869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190862833	chr6:57900876-57900877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9358012	chr6:57900885-57900886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545401396	chr6:57900905-57900906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3125397	chr6:57900916-57900917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527991505	chr6:57900974-57900975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549343388	chr6:57901015-57901016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567822343	chr6:57901018-57901019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535242175	chr6:57901020-57901021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112589158	chr6:57901042-57901043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557006536	chr6:57901140-57901141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9370693	chr6:57901185-57901186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9358013	chr6:57901529-57901530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28374852	chr6:57901565-57901566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57067581	chr6:57901597-57901598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28716544	chr6:57901599-57901600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28726134	chr6:57901631-57901632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4715864	chr6:57901667-57901668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28581752	chr6:57901673-57901674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61567806	chr6:57901717-57901718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60195693	chr6:57901725-57901726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59988292	chr6:57901727-57901728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58780534	chr6:57901733-57901734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60085636	chr6:57901736-57901737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57634300	chr6:57901743-57901744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59871045	chr6:57901745-57901746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58719214	chr6:57901750-57901751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61346040	chr6:57901751-57901752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191410863	chr6:57901792-57901793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371748605	chr6:57901803-57901804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57900400-57900800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:57900800-57902000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:57902000-57902400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:57902000-57902400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:57912400-57912800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr6:57913800-57915200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:57914000-57915400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:57914000-57915400	Enhancers	NHEK	skin
9	chr6:57915200-57915400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:57915400-57916200	Active TSS	NHEK	skin
13	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:57916200-57917600	Weak transcription	NHEK	skin
16	chr6:57916800-57917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:57917200-57918200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:57917200-57919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:57917400-57918400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:57917400-57918600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:57917400-57919800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:57917600-57918200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:57917600-57918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:57917600-57918200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:57917600-57918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:57917600-57918200	Enhancers	NHEK	skin
27	chr6:57917800-57919600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:57918000-57918600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:57918000-57918600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:57918200-57919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:57918200-57919200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:57918200-57919600	Weak transcription	NHEK	skin
33	chr6:57919000-57919400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:57919000-57919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:57919200-57919400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:57919400-57919800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:57919600-57919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:57919600-57921600	Enhancers	NHEK	skin
39	chr6:57920000-57920400	Enhancers	HMEC	breast
40	chr6:57944400-57944800	Enhancers	Fetal Brain Male	brain
41	chr6:58141200-58141600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:58141400-58141800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr6:58141400-58143200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:58141400-58143400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:58141600-58141800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:58141600-58141800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:58141600-58141800	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr6:58141600-58141800	Bivalent Enhancer	Placenta	Placenta
49	chr6:58141600-58141800	Bivalent Enhancer	NHDF-Ad	bronchial
50	chr6:58141600-58142000	Bivalent Enhancer	HUVEC	blood vessel

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