Variant report

Variant	esv33308
Chromosome Location	chr6:63919357-63956379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:366)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:63946532-63946753	GM12878	blood:	n/a	n/a
2	BATF	chr6:63934113-63934324	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:63946547-63946562	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:63955402-63955745	A549	lung:	n/a	chr6:63955575-63955586
5	CEBPB	chr6:63946520-63946863	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:63925110-63925404	HepG2	liver:	n/a	chr6:63925265-63925274
7	CEBPB	chr6:63955392-63955791	Hela-S3	cervix:	n/a	chr6:63955575-63955586
8	CEBPB	chr6:63955402-63955758	IMR90	lung:	n/a	chr6:63955575-63955586
9	CEBPB	chr6:63924655-63924850	K562	blood:	n/a	n/a
10	CEBPB	chr6:63955441-63955717	HepG2	liver:	n/a	chr6:63955575-63955586
11	CEBPB	chr6:63955353-63955771	HepG2	liver:	n/a	chr6:63955575-63955586
12	CEBPB	chr6:63955408-63955727	K562	blood:	n/a	chr6:63955575-63955586
13	CEBPB	chr6:63955435-63955746	H1-hESC	embryonic stem cell:	n/a	chr6:63955575-63955586
14	CEBPD	chr6:63924639-63924885	K562	blood:	n/a	n/a
15	CHD2	chr6:63946825-63946865	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:63955980-63956130	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr6:63922700-63922850	GM12878	blood:	n/a	n/a
18	CTCF	chr6:63922700-63922850	HEK293	kidney:	n/a	n/a
19	CTCF	chr6:63955960-63956110	HEK293	kidney:	n/a	n/a
20	CTCF	chr6:63955920-63956070	GM12870	blood:	n/a	n/a
21	CTCF	chr6:63955958-63956158	GM12878	blood:	n/a	n/a
22	CTCF	chr6:63922695-63922839	GM20000	blood:	n/a	n/a
23	CTCF	chr6:63922766-63922778	Medullo	brain:	n/a	n/a
24	CTCF	chr6:63956080-63956230	GM12801	blood:	n/a	n/a
25	CTCF	chr6:63955991-63956012	GM10248	blood:	n/a	n/a
26	CTCF	chr6:63955980-63956130	HepG2	liver:	n/a	n/a
27	CTCF	chr6:63940229-63940278	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr6:63955880-63956030	GM12869	blood:	n/a	n/a
29	CTCF	chr6:63955999-63956058	Fibrobl	skin:	n/a	n/a
30	CTCF	chr6:63922738-63922787	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:63955940-63956090	GM12872	blood:	n/a	n/a
32	CTCF	chr6:63955960-63956110	GM12873	blood:	n/a	n/a
33	CTCF	chr6:63956006-63956074	GM12892	blood:	n/a	n/a
34	CTCF	chr6:63955980-63956130	GM12874	blood:	n/a	n/a
35	CTCF	chr6:63955940-63956090	GM12864	blood:	n/a	n/a
36	CTCF	chr6:63955980-63956130	GM12873	blood:	n/a	n/a
37	CTCF	chr6:63955740-63955890	RPTEC	kidney:	n/a	n/a
38	CTCF	chr6:63955992-63956074	Gliobla	brain:	n/a	n/a
39	CTCF	chr6:63955943-63956113	GM12878	blood:	n/a	n/a
40	CTCF	chr6:63955860-63956010	HEK293	kidney:	n/a	n/a
41	CTCF	chr6:63946360-63946510	GM12871	blood:	n/a	n/a
42	CTCF	chr6:63955920-63956070	GM06990	blood:	n/a	n/a
43	CTCF	chr6:63955978-63956074	Medullo	brain:	n/a	n/a
44	CTCF	chr6:63955900-63956050	GM12864	blood:	n/a	n/a
45	CTCF	chr6:63955960-63956110	HMF	breast:	n/a	n/a
46	CTCF	chr6:63955960-63956110	Caco-2	colon:	n/a	n/a
47	CTCF	chr6:63922685-63922757	Gliobla	brain:	n/a	n/a
48	CTCF	chr6:63955940-63956090	NB4	blood:	n/a	n/a
49	CTCF	chr6:63955961-63956095	A549	lung:	n/a	n/a
50	CTCF	chr6:63955911-63956118	Hela-S3	cervix:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:63921501-63921551	GM12878	blood:	n/a
2	chr6:63940138-63940188	NH-A	brain:	n/a
3	chr6:63940138-63940188	GM12891	blood:	n/a
4	chr6:63940138-63940188	GM12878	blood:	n/a
5	chr6:63940486-63940536	LNCaP	prostate:	n/a
6	chr6:63940486-63940536	PrEC	prostate:	n/a
7	chr6:63940486-63940536	GM12891	blood:	n/a
8	chr6:63921458-63921508	HRE	kidney:	n/a
9	chr6:63940138-63940188	RPTEC	kidney:	n/a
10	chr6:63921501-63921551	GM19239	blood:	n/a
11	chr6:63940486-63940536	AG04449	skin:	fetal
12	chr6:63947428-63947478	ProgFib	skin:	n/a
13	chr6:63921394-63921444	NH-A	brain:	n/a
14	chr6:63921458-63921508	HCPEpiC	choroid plexus:	n/a
15	chr6:63940138-63940188	U87	brain:	n/a
16	chr6:63940138-63940188	ovcar-3	ovarian:	n/a
17	chr6:63947428-63947478	HIPEpiC	eye:	n/a
18	chr6:63921394-63921444	HepG2	liver:	n/a
19	chr6:63921394-63921444	HCF	heart:	n/a
20	chr6:63940486-63940536	HEEpiC	esophagus:	n/a
21	chr6:63947428-63947478	GM12891	blood:	n/a
22	chr6:63947428-63947478	HCF	heart:	n/a
23	chr6:63947428-63947478	HCM	heart:	n/a
24	chr6:63940138-63940188	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:63947428-63947478	NHDF-neo	bronchial:	n/a
26	chr6:63947428-63947478	Hela-S3	cervix:	n/a
27	chr6:63940486-63940536	NT2-D1	testis:	n/a
28	chr6:63940486-63940536	AG09309	skin:	n/a
29	chr6:63921458-63921508	GM12892	blood:	n/a
30	chr6:63921394-63921444	AG04450	lung:	fetal
31	chr6:63940138-63940188	NB4	blood:	n/a
32	chr6:63921394-63921444	HRCEpiC	kidney:	n/a
33	chr6:63921458-63921508	HAEpiC	amniotic membrane:	n/a
34	chr6:63940486-63940536	HRE	kidney:	n/a
35	chr6:63947428-63947478	GM12892	blood:	n/a
36	chr6:63921394-63921444	RPTEC	kidney:	n/a
37	chr6:63940486-63940536	SK-N-SH	brain:	n/a
38	chr6:63940486-63940536	HCPEpiC	choroid plexus:	n/a
39	chr6:63940138-63940188	PrEC	prostate:	n/a
40	chr6:63947428-63947478	BJ	skin:	n/a
41	chr6:63947428-63947478	HepG2	liver:	n/a
42	chr6:63921394-63921444	AG04449	skin:	fetal
43	chr6:63921501-63921551	PANC-1	pancreas:	n/a
44	chr6:63947428-63947478	NH-A	brain:	n/a
45	chr6:63921394-63921444	CMK	blood:	n/a
46	chr6:63921501-63921551	Jurkat	blood:	n/a
47	chr6:63940486-63940536	RPTEC	kidney:	n/a
48	chr6:63940486-63940536	H1-hESC	embryonic stem cell:	embryo
49	chr6:63921394-63921444	NHBE	bronchial:	n/a
50	chr6:63921394-63921444	HUVEC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:63935123..63936664-chr6:63993478..63995873,2	MCF-7	breast:
2	chr6:63948917..63949801-chr6:64200742..64201532,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1C-1	chr6:63937390-63937648	NONHSAT113340

No data

Variant related genes	Relation type
FKBP1C	TF binding region
SPTLC1P3	TF binding region
ENSG00000218520	TF binding region
FKBP1C	CpG island
SPTLC1P3	CpG island
ENSG00000218520	CpG island

Extended variants
information (count: 520 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570270748	chr6:63919772-63919773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189544300	chr6:63919863-63919864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555881874	chr6:63919865-63919866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577221312	chr6:63919892-63919893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538741960	chr6:63919905-63919906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371502598	chr6:63919942-63919943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs4035415	chr6:63919978-63919979	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578247120	chr6:63921358-63921359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372336950	chr6:63921360-63921361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4710420	chr6:63921361-63921362	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527692375	chr6:63921363-63921364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559472605	chr6:63921364-63921365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549173761	chr6:63921373-63921374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532445120	chr6:63921393-63921394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561455176	chr6:63921395-63921396	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs145322889	chr6:63921398-63921399	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs370708882	chr6:63921413-63921414	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs11550409	chr6:63921417-63921418	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs549556802	chr6:63921425-63921426	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs374339224	chr6:63921434-63921435	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs538500009	chr6:63921437-63921438	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs76273486	chr6:63921442-63921443	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs565507387	chr6:63921453-63921454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536267612	chr6:63921455-63921456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79100944	chr6:63921456-63921457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs60465916	chr6:63924023-63924024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574544909	chr6:63924041-63924042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183289030	chr6:63924042-63924043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567502340	chr6:63924112-63924113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149410200	chr6:63924119-63924120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188339012	chr6:63924120-63924121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546165898	chr6:63924134-63924135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564031339	chr6:63924174-63924175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147474634	chr6:63924175-63924176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532894538	chr6:63924176-63924177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546647449	chr6:63924199-63924200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561608277	chr6:63924246-63924247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139989460	chr6:63924311-63924312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143789938	chr6:63924325-63924326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372661230	chr6:63924326-63924327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569964754	chr6:63924340-63924341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550467921	chr6:63924360-63924361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34694815	chr6:63924366-63924367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531065936	chr6:63924367-63924368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192571631	chr6:63924371-63924372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570476230	chr6:63924424-63924425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9352678	chr6:63924429-63924430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553357990	chr6:63924443-63924444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77103665	chr6:63924485-63924486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571872357	chr6:63924521-63924522	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	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
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63924000-63925600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:63943000-63946800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:63945200-63945400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr6:63945400-63946400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:63946200-63946400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:63946200-63946400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:63946200-63946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:63946200-63946800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:63946200-63947200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:63946200-63947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:63946200-63947400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:63946200-63947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:63946200-63947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:63946400-63946800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:63946400-63946800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:63946400-63946800	Enhancers	Fetal Lung	lung
17	chr6:63946400-63947200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:63946400-63947400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:63946400-63947400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:63946600-63947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:63946800-63947400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:63947200-63947400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr6:63947200-63947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:63947200-63949600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:63947600-63947800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:63949600-63951000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:63955400-63955600	Enhancers	Fetal Brain Male	brain
28	chr6:63955800-63957200	Weak transcription	Fetal Brain Male	brain

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