Variant report

Variant	esv2762595
Chromosome Location	chr6:63931504-63948305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:63934113-63934324	GM12878	blood:	n/a	n/a
2	BATF	chr6:63946532-63946753	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:63946547-63946562	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:63946520-63946863	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr6:63946825-63946865	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:63940229-63940278	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr6:63938777-63938853	Fibrobl	skin:	n/a	n/a
8	CTCF	chr6:63935040-63935190	GM12869	blood:	n/a	n/a
9	CTCF	chr6:63946360-63946510	GM12871	blood:	n/a	n/a
10	CTCF	chr6:63946343-63946484	GM19239	blood:	n/a	n/a
11	CTCF	chr6:63937579-63937645	LNCaP	prostate:	n/a	n/a
12	EP300	chr6:63946504-63946731	GM12878	blood:	n/a	n/a
13	EP300	chr6:63934178-63934375	GM12878	blood:	n/a	n/a
14	FAM48A	chr6:63946426-63946559	GM12878	blood:	n/a	n/a
15	FOS	chr6:63935968-63936265	MCF10A-Er-Src	breast:	n/a	chr6:63936106-63936115 chr6:63936106-63936113
16	FOS	chr6:63935963-63936271	MCF10A-Er-Src	breast:	n/a	chr6:63936106-63936115 chr6:63936106-63936113
17	FOS	chr6:63936068-63936294	MCF10A-Er-Src	breast:	n/a	chr6:63936106-63936115 chr6:63936106-63936113
18	FOS	chr6:63935967-63936295	MCF10A-Er-Src	breast:	n/a	chr6:63936106-63936115 chr6:63936106-63936113
19	GATA3	chr6:63931422-63931622	SH-SY5Y	brain:	n/a	chr6:63931507-63931516
20	IKZF1	chr6:63946451-63946719	GM12878	blood:	n/a	n/a
21	JUN	chr6:63936855-63937037	K562	blood:	n/a	n/a
22	KAP1	chr6:63938186-63938657	HEK293	kidney:	n/a	n/a
23	MAFK	chr6:63947588-63947740	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr6:63938260-63938265	MCF-7	breast:	n/a	n/a
25	MYC	chr6:63935867-63936060	MCF10A-Er-Src	breast:	n/a	n/a
26	PBX3	chr6:63941085-63941204	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:63938199-63938278	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:63947042-63947194	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:63938181-63938272	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:63939108-63939755	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:63946172-63946701	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr6:63940635-63941331	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:63936257-63936260	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:63946270-63946717	H1-neurons	neurons:	n/a	n/a
35	POU2F2	chr6:63940631-63941302	GM12878	blood:	n/a	n/a
36	RAD21	chr6:63946300-63946582	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr6:63946309-63946640	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr6:63939941-63940060	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr6:63946210-63946667	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIX5	chr6:63940685-63941010	K562	blood:	n/a	n/a
41	SP1	chr6:63946418-63946880	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr6:63946316-63946858	H1-hESC	embryonic stem cell:	n/a	n/a
43	SPI1	chr6:63946407-63946842	HL-60	blood:	n/a	n/a
44	STAT3	chr6:63935445-63935683	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr6:63939454-63939642	GM12878	blood:	n/a	n/a
46	TCF7L2	chr6:63933755-63934114	HepG2	liver:	n/a	n/a
47	ZNF143	chr6:63946341-63946713	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF263	chr6:63938046-63938519	HEK293-T-REx	kidney:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:63940486-63940536	MCF10A-Er-Src	breast:	n/a
2	chr6:63940486-63940536	MCF10A-Er-Src	breast:	n/a
3	chr6:63947428-63947478	NHDF-neo	bronchial:	n/a
4	chr6:63940138-63940188	GM12878	blood:	n/a
5	chr6:63940486-63940536	SK-N-SH_RA	brain:	n/a
6	chr6:63940486-63940536	PFSK-1	brain:	n/a
7	chr6:63940486-63940536	K562	blood:	n/a
8	chr6:63940486-63940536	NHBE	bronchial:	n/a
9	chr6:63947428-63947478	HRCEpiC	kidney:	n/a
10	chr6:63940486-63940536	HRE	kidney:	n/a
11	chr6:63947428-63947478	ovcar-3	ovarian:	n/a
12	chr6:63947428-63947478	PrEC	prostate:	n/a
13	chr6:63940138-63940188	NB4	blood:	n/a
14	chr6:63940138-63940188	HEEpiC	esophagus:	n/a
15	chr6:63947428-63947478	GM06990	blood:	n/a
16	chr6:63940138-63940188	HepG2	liver:	n/a
17	chr6:63940486-63940536	A549	lung:	n/a
18	chr6:63940138-63940188	HRE	kidney:	n/a
19	chr6:63940138-63940188	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:63940486-63940536	GM19239	blood:	n/a
21	chr6:63940486-63940536	RPTEC	kidney:	n/a
22	chr6:63947428-63947478	BJ	skin:	n/a
23	chr6:63947428-63947478	IMR90	lung:	fetal
24	chr6:63940486-63940536	GM12891	blood:	n/a
25	chr6:63940486-63940536	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:63940138-63940188	NT2-D1	testis:	n/a
27	chr6:63947428-63947478	SK-N-MC	brain:	n/a
28	chr6:63947428-63947478	MCF10A-Er-Src	breast:	n/a
29	chr6:63940138-63940188	SK-N-SH	brain:	n/a
30	chr6:63940138-63940188	GM12892	blood:	n/a
31	chr6:63940138-63940188	MCF-7	breast:	n/a
32	chr6:63940486-63940536	HUVEC	blood vessel:	n/a
33	chr6:63947428-63947478	AG10803	skin:	n/a
34	chr6:63940486-63940536	IMR90	lung:	fetal
35	chr6:63940486-63940536	HL-60	blood:	n/a
36	chr6:63940486-63940536	BE2_C	brain:	n/a
37	chr6:63940486-63940536	NB4	blood:	n/a
38	chr6:63947428-63947478	Jurkat	blood:	n/a
39	chr6:63940486-63940536	HMEC	breast:	n/a
40	chr6:63947428-63947478	HRE	kidney:	n/a
41	chr6:63940138-63940188	AG10803	skin:	n/a
42	chr6:63947428-63947478	HepG2	liver:	n/a
43	chr6:63940486-63940536	MCF-7	breast:	n/a
44	chr6:63940138-63940188	Hepatocyte	liver:	n/a
45	chr6:63947428-63947478	AG09319	gingival:	n/a
46	chr6:63940138-63940188	AG09319	gingival:	n/a
47	chr6:63947428-63947478	HNPCEpiC	eye:	n/a
48	chr6:63940138-63940188	AG09309	skin:	n/a
49	chr6:63947428-63947478	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:63940486-63940536	H1-hESC	embryonic stem cell:	embryo

(count:1 , 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:

(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
SPTLC1P3	TF binding region
ENSG00000218520	TF binding region
SPTLC1P3	CpG island
ENSG00000218520	CpG island

Extended variants
information (count: 332 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151175515	chr6:63933759-63933760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551548461	chr6:63933776-63933777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566550262	chr6:63933836-63933837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188527415	chr6:63933846-63933847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548882528	chr6:63933884-63933885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs180902637	chr6:63933931-63933932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537428586	chr6:63933937-63933938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199895475	chr6:63933979-63933980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs34435970	chr6:63933980-63933981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs74839607	chr6:63933981-63933982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200845359	chr6:63933982-63933983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201800436	chr6:63933985-63933986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555920990	chr6:63934019-63934020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559845439	chr6:63934036-63934037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185163632	chr6:63934042-63934043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189383429	chr6:63934096-63934097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538403510	chr6:63934106-63934107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558286187	chr6:63934111-63934112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573490900	chr6:63934159-63934160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540899943	chr6:63934172-63934173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs559018514	chr6:63934173-63934174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs75449125	chr6:63934175-63934176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140058797	chr6:63934203-63934204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182222210	chr6:63934204-63934205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562785833	chr6:63934316-63934317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs149880993	chr6:63934326-63934327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545178399	chr6:63934331-63934332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72888565	chr6:63934360-63934361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs59184204	chr6:63935054-63935055	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs16894126	chr6:63935138-63935139	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560593095	chr6:63935146-63935147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs143274203	chr6:63935169-63935170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369910863	chr6:63935177-63935178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189995764	chr6:63935463-63935464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs6927705	chr6:63935476-63935477	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539800331	chr6:63935477-63935478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572205828	chr6:63935495-63935496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182255368	chr6:63935511-63935512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377241260	chr6:63935530-63935531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560710117	chr6:63935546-63935547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576177734	chr6:63935557-63935558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543630225	chr6:63935563-63935564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565040445	chr6:63935565-63935566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565017303	chr6:63935570-63935571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12192151	chr6:63935580-63935581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540664797	chr6:63935674-63935675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs555674051	chr6:63935873-63935874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553704221	chr6:63935879-63935880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs572302652	chr6:63935911-63935912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187715884	chr6:63935926-63935927	Inactive region	TF binding region	1 gene(s)	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:24 , 50 per page) page: 1

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

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