Variant report

Variant	nsv885955
Chromosome Location	chr6:57873678-58144557
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	chr6:58141691-58142004	K562	blood:	n/a	n/a
3	ATF3	chr6:58142478-58142721	A549	lung:	n/a	n/a
4	ATF3	chr6:58142472-58142715	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	GM12870	blood:	n/a	n/a
7	CTCF	chr6:57903807-57904061	Medullo	brain:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
8	CTCF	chr6:57903680-57903830	HEK293	kidney:	n/a	n/a
9	CTCF	chr6:58071598-58071641	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr6:57903680-57903830	GM12873	blood:	n/a	n/a
11	CTCF	chr6:57903855-57904044	Spleen_OC	spleen:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
12	CTCF	chr6:57903680-57903830	BE2_C	brain:	n/a	n/a
13	CTCF	chr6:58047077-58047104	Lung_OC	lung:	n/a	n/a
14	CTCF	chr6:57964797-57964883	GM10248	blood:	n/a	n/a
15	CTCF	chr6:57983763-57983815	GM20000	blood:	n/a	n/a
16	CTCF	chr6:58078687-58078728	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr6:57877140-57877247	Fibrobl	skin:	n/a	n/a
18	CTCF	chr6:57944165-57944201	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr6:58060036-58060088	LNCaP	prostate:	n/a	n/a
20	CTCF	chr6:57976615-57976701	GM13977	blood:	n/a	n/a
21	CTCF	chr6:57903680-57903830	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr6:57880400-57880550	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr6:57903580-57903730	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr6:57903660-57903810	HVMF	connective:	n/a	n/a
25	CTCF	chr6:57903827-57903985	ProgFib	skin:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
26	CTCF	chr6:57903814-57904061	LNCaP	prostate:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
27	CTCF	chr6:57903826-57904041	GM13977	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
28	CTCF	chr6:57903820-57904035	Hela-S3	cervix:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
29	CTCF	chr6:57903787-57904046	MCF-7	breast:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
30	CTCF	chr6:57903820-57904051	Pancreas_OC	pancreas:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
31	CTCF	chr6:57903815-57903996	HepG2	liver:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
32	CTCF	chr6:57903680-57903830	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr6:57903766-57904025	Gliobla	brain:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
34	CTCF	chr6:58077742-58077787	LNCaP	prostate:	n/a	n/a
35	CTCF	chr6:57903837-57903982	GM10266	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
36	CTCF	chr6:58032301-58032319	HepG2	liver:	n/a	n/a
37	CTCF	chr6:58082567-58082591	GM10248	blood:	n/a	n/a
38	CTCF	chr6:57903580-57903730	HMEC	breast:	n/a	n/a
39	CTCF	chr6:57903866-57904067	GM10248	blood:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
40	CTCF	chr6:57903680-57903830	HMF	breast:	n/a	n/a
41	CTCF	chr6:58073423-58073477	Fibrobl	skin:	n/a	n/a
42	CTCF	chr6:57903680-57903830	HMEC	breast:	n/a	n/a
43	CTCF	chr6:57903810-57904008	MCF-7	breast:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
44	CTCF	chr6:58142262-58142315	Fibrobl	skin:	n/a	n/a
45	CTCF	chr6:57880395-57880518	NHEK	skin:	n/a	n/a
46	CTCF	chr6:57903833-57904036	Kidney_OC	kidney:	n/a	chr6:57903906-57903927 chr6:57903911-57903929
47	CTCF	chr6:57880380-57880530	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr6:58142480-58142630	HEK293	kidney:	n/a	n/a
49	CTCF	chr6:58025840-58025911	Medullo	brain:	n/a	n/a
50	CTCF	chr6:57903680-57903830	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57972349-57972399	ECC-1	luminal epithelium:	n/a
2	chr6:57970592-57970642	IMR90	lung:	fetal
3	chr6:57972349-57972399	ECC-1	luminal epithelium:	n/a
4	chr6:57970592-57970642	IMR90	lung:	fetal
5	chr6:57972349-57972399	ovcar-3	ovarian:	n/a
6	chr6:57970592-57970642	Hepatocyte	liver:	n/a
7	chr6:57970592-57970642	NT2-D1	testis:	n/a
8	chr6:57970592-57970642	U87	brain:	n/a
9	chr6:57912662-57912712	HRE	kidney:	n/a
10	chr6:58142044-58142094	Jurkat	blood:	n/a
11	chr6:57972680-57972730	AG09319	gingival:	n/a
12	chr6:58001971-58002021	SK-N-SH	brain:	n/a
13	chr6:57912662-57912712	GM19239	blood:	n/a
14	chr6:57972721-57972771	LNCaP	prostate:	n/a
15	chr6:58142044-58142094	HRPEpiC	eye:	n/a
16	chr6:57972721-57972771	HRE	kidney:	n/a
17	chr6:58142044-58142094	HepG2	liver:	n/a
18	chr6:57970666-57970716	A549	lung:	n/a
19	chr6:57970592-57970642	ovcar-3	ovarian:	n/a
20	chr6:57972223-57972273	LNCaP	prostate:	n/a
21	chr6:57912662-57912712	GM06990	blood:	n/a
22	chr6:58141890-58141940	HEEpiC	esophagus:	n/a
23	chr6:58142044-58142094	A549	lung:	n/a
24	chr6:58001971-58002021	PFSK-1	brain:	n/a
25	chr6:58142044-58142094	NT2-D1	testis:	n/a
26	chr6:57970592-57970642	HRPEpiC	eye:	n/a
27	chr6:58141890-58141940	HRPEpiC	eye:	n/a
28	chr6:58142044-58142094	HRE	kidney:	n/a
29	chr6:57972721-57972771	HCT-116	colon:	n/a
30	chr6:58142044-58142094	HRCEpiC	kidney:	n/a
31	chr6:57970592-57970642	GM12892	blood:	n/a
32	chr6:57972680-57972730	HCT-116	colon:	n/a
33	chr6:57970666-57970716	GM12891	blood:	n/a
34	chr6:57970592-57970642	HIPEpiC	eye:	n/a
35	chr6:57912662-57912712	SAEC	small airway:	n/a
36	chr6:58142044-58142094	RPTEC	kidney:	n/a
37	chr6:58001971-58002021	K562	blood:	n/a
38	chr6:57972349-57972399	MCF10A-Er-Src	breast:	n/a
39	chr6:57970666-57970716	LNCaP	prostate:	n/a
40	chr6:58001971-58002021	Hepatocyte	liver:	n/a
41	chr6:58141890-58141940	GM06990	blood:	n/a
42	chr6:57972680-57972730	HNPCEpiC	eye:	n/a
43	chr6:57972721-57972771	T-47D	breast:	n/a
44	chr6:57970666-57970716	Jurkat	blood:	n/a
45	chr6:58142044-58142094	AG04450	lung:	fetal
46	chr6:57972721-57972771	H1-hESC	embryonic stem cell:	embryo
47	chr6:57912662-57912712	NH-A	brain:	n/a
48	chr6:57972223-57972273	HRCEpiC	kidney:	n/a
49	chr6:57972680-57972730	HL-60	blood:	n/a
50	chr6:57972223-57972273	NH-A	brain:	n/a

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

Extended variants
information (count: 659 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373519817	chr6:57892230-57892231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530291519	chr6:57892259-57892260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180759984	chr6:57892272-57892273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569879563	chr6:57892295-57892296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578050142	chr6:57892303-57892304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531339881	chr6:57892366-57892367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549826151	chr6:57892382-57892383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185808442	chr6:57892422-57892423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538616860	chr6:57892444-57892445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553760321	chr6:57892450-57892451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565981797	chr6:57892478-57892479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536524731	chr6:57892491-57892492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554821384	chr6:57892515-57892516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190211181	chr6:57892524-57892525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543584231	chr6:57892542-57892543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559007152	chr6:57892543-57892544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202084944	chr6:57892553-57892554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577209986	chr6:57892561-57892562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541425552	chr6:57892572-57892573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540296089	chr6:57892653-57892654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377546722	chr6:57892657-57892658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559277591	chr6:57892660-57892661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530341314	chr6:57892670-57892671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116686537	chr6:57892689-57892690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560200911	chr6:57892695-57892696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149782198	chr6:57892733-57892734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531128146	chr6:57892742-57892743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543251686	chr6:57900428-57900429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3125386	chr6:57900443-57900444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142361763	chr6:57900456-57900457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116466618	chr6:57900488-57900489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3125387	chr6:57900493-57900494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3125388	chr6:57900499-57900500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73758405	chr6:57900506-57900507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187239311	chr6:57900659-57900660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3125390	chr6:57900694-57900695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574888748	chr6:57900717-57900718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545731732	chr6:57900734-57900735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3125391	chr6:57900739-57900740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564047505	chr6:57900740-57900741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115559369	chr6:57900745-57900746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3125392	chr6:57900748-57900749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3125393	chr6:57900758-57900759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73758406	chr6:57900767-57900768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561887082	chr6:57900831-57900832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529402289	chr6:57900848-57900849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551034018	chr6:57900865-57900866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562918494	chr6:57900868-57900869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190862833	chr6:57900876-57900877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9358012	chr6:57900885-57900886	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57892200-57892800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:57892400-57892800	Enhancers	Fetal Intestine Small	intestine
3	chr6:57900400-57900800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:57900800-57902000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:57902000-57902400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57902000-57902400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:57912400-57912800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr6:57913800-57915200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:57914000-57915400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:57914000-57915400	Enhancers	NHEK	skin
11	chr6:57915200-57915400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:57915400-57916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:57915400-57916200	Active TSS	NHEK	skin
15	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:57916200-57917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:57916200-57917600	Weak transcription	NHEK	skin
18	chr6:57916800-57917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:57917200-57918200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:57917200-57919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:57917400-57918400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:57917400-57918600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:57917400-57919800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:57917600-57918200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:57917600-57918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:57917600-57918200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:57917600-57918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:57917600-57918200	Enhancers	NHEK	skin
29	chr6:57917800-57919600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:57918000-57918600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:57918000-57918600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:57918200-57919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:57918200-57919200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:57918200-57919600	Weak transcription	NHEK	skin
35	chr6:57919000-57919400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:57919000-57919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:57919200-57919400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:57919400-57919800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:57919600-57919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:57919600-57921600	Enhancers	NHEK	skin
41	chr6:57920000-57920400	Enhancers	HMEC	breast
42	chr6:57944400-57944800	Enhancers	Fetal Brain Male	brain
43	chr6:58141200-58141600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:58141400-58141800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:58141400-58143200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:58141400-58143400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:58141600-58141800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:58141600-58141800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:58141600-58141800	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr6:58141600-58141800	Bivalent Enhancer	Placenta	Placenta

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