Variant report

Variant	esv3337222
Chromosome Location	chr6:63384042-63424380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:63417080-63417230	GM12864	blood:	n/a	n/a
2	CTCF	chr6:63417160-63417310	GM12870	blood:	n/a	n/a
3	CTCF	chr6:63417201-63417313	GM12878	blood:	n/a	n/a
4	CTCF	chr6:63417080-63417230	GM12866	blood:	n/a	n/a
5	CTCF	chr6:63417180-63417330	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr6:63417240-63417390	HepG2	liver:	n/a	n/a
7	CTCF	chr6:63417187-63417355	HepG2	liver:	n/a	n/a
8	CTCF	chr6:63417220-63417370	GM12872	blood:	n/a	n/a
9	CTCF	chr6:63417180-63417330	GM12865	blood:	n/a	n/a
10	CTCF	chr6:63417200-63417350	A549	lung:	n/a	n/a
11	CTCF	chr6:63417180-63417330	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr6:63417202-63417320	GM19238	blood:	n/a	n/a
13	CTCF	chr6:63417236-63417319	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:63417080-63417230	GM12873	blood:	n/a	n/a
15	CTCF	chr6:63417196-63417333	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:63417020-63417310	GM12867	blood:	n/a	n/a
17	CTCF	chr6:63417120-63417270	BE2_C	brain:	n/a	n/a
18	CTCF	chr6:63417200-63417350	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr6:63417200-63417350	HEK293	kidney:	n/a	n/a
20	CTCF	chr6:63417160-63417310	K562	blood:	n/a	n/a
21	CTCF	chr6:63417200-63417350	GM12872	blood:	n/a	n/a
22	CTCF	chr6:63417160-63417310	GM12878	blood:	n/a	n/a
23	CTCF	chr6:63417213-63417289	GM13977	blood:	n/a	n/a
24	CTCF	chr6:63417243-63417294	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:63417260-63417410	GM12864	blood:	n/a	n/a
26	CTCF	chr6:63417180-63417330	GM12866	blood:	n/a	n/a
27	CTCF	chr6:63416960-63417110	GM12866	blood:	n/a	n/a
28	CTCF	chr6:63417238-63417289	A549	lung:	n/a	n/a
29	CTCF	chr6:63417160-63417310	GM12873	blood:	n/a	n/a
30	CTCF	chr6:63417140-63417290	GM12864	blood:	n/a	n/a
31	CTCF	chr6:63417180-63417330	GM12874	blood:	n/a	n/a
32	CTCF	chr6:63417200-63417350	GM12875	blood:	n/a	n/a
33	CTCF	chr6:63417180-63417330	NB4	blood:	n/a	n/a
34	CTCF	chr6:63417140-63417290	HL-60	blood:	n/a	n/a
35	CTCF	chr6:63417160-63417310	HEK293	kidney:	n/a	n/a
36	CTCF	chr6:63417154-63417322	HepG2	liver:	n/a	n/a
37	CTCF	chr6:63417230-63417323	GM12891	blood:	n/a	n/a
38	CTCF	chr6:63417220-63417370	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr6:63417220-63417370	GM12873	blood:	n/a	n/a
40	CTCF	chr6:63417160-63417310	HepG2	liver:	n/a	n/a
41	CTCF	chr6:63417100-63417250	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:63417120-63417270	GM12874	blood:	n/a	n/a
43	CTCF	chr6:63417140-63417290	GM12872	blood:	n/a	n/a
44	CTCF	chr6:63417220-63417370	GM12868	blood:	n/a	n/a
45	CTCF	chr6:63417140-63417290	GM12865	blood:	n/a	n/a
46	CTCF	chr6:63417180-63417330	Caco-2	colon:	n/a	n/a
47	CTCF	chr6:63417100-63417250	GM12869	blood:	n/a	n/a
48	E2F4	chr6:63423811-63424011	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr6:63386751-63386792	GM12878	blood:	n/a	n/a
50	FAM48A	chr6:63389667-63389755	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:63381016..63382588-chr6:63383396..63385763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000216072	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140194210	chr6:63388000-63388001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535693790	chr6:63388015-63388016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs72881697	chr6:63388038-63388039	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10943102	chr6:63388050-63388051	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539406526	chr6:63388053-63388054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557437548	chr6:63388187-63388188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572798018	chr6:63388188-63388189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377330976	chr6:63388191-63388192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555738429	chr6:63388204-63388205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182857470	chr6:63388241-63388242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187929730	chr6:63388244-63388245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370342168	chr6:63388249-63388250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530874260	chr6:63388290-63388291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546301630	chr6:63388294-63388295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564277595	chr6:63388311-63388312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528497046	chr6:63388355-63388356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12176521	chr6:63388385-63388386	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568463076	chr6:63388393-63388394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532094718	chr6:63416011-63416012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182988965	chr6:63416056-63416057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187280865	chr6:63416066-63416067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547686753	chr6:63416070-63416071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536547012	chr6:63416083-63416084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548228473	chr6:63416124-63416125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569942426	chr6:63416154-63416155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536800403	chr6:63416182-63416183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558810174	chr6:63416200-63416201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546934934	chr6:63423435-63423436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568772659	chr6:63423457-63423458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576758564	chr6:63423473-63423474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190111255	chr6:63423474-63423475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551210225	chr6:63423526-63423527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73500480	chr6:63423550-63423551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539187404	chr6:63423611-63423612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557733444	chr6:63423613-63423614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181318973	chr6:63423615-63423616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2752970	chr6:63423700-63423701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184144640	chr6:63423711-63423712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2843108	chr6:63423721-63423722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2752971	chr6:63423742-63423743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555977032	chr6:63423748-63423749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115264391	chr6:63423758-63423759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550945406	chr6:63423806-63423807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2843109	chr6:63423861-63423862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530493290	chr6:63423867-63423868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188502274	chr6:63423871-63423872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2843110	chr6:63423882-63423883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540644046	chr6:63423906-63423907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140794638	chr6:63423946-63423947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144522459	chr6:63423976-63423977	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63388000-63388400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:63416000-63416200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:63423400-63425400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:63423800-63424000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:63423800-63424200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:63423800-63424200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:63423800-63424200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:63423800-63425200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:63423800-63425400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:63424000-63424400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:63424000-63424400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:63424000-63424400	Enhancers	Psoas Muscle	Psoas
13	chr6:63424000-63424600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:63424000-63424600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:63424200-63425200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:63424200-63425200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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