Variant report

Variant	esv1816392
Chromosome Location	chr6:144198860-144205591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:144199521-144200216	T-47D	breast:	n/a	n/a
2	FOS	chr6:144199585-144199857	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:144199570-144199930	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:144199588-144199867	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr6:144199555-144200146	T-47D	breast:	n/a	n/a
6	FOXA1	chr6:144199558-144199896	T-47D	breast:	n/a	n/a
7	FOXA1	chr6:144199553-144199941	HepG2	liver:	n/a	n/a
8	GATA3	chr6:144199537-144200096	T-47D	breast:	n/a	n/a
9	GATA3	chr6:144199549-144199846	T-47D	breast:	n/a	n/a
10	KAP1	chr6:144199440-144200026	HEK293	kidney:	n/a	n/a
11	MAFK	chr6:144199152-144199266	HepG2	liver:	n/a	n/a
12	MYC	chr6:144202409-144202462	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr6:144199560-144199646	MCF-7	breast:	n/a	n/a
14	POLR2A	chr6:144199551-144199586	MCF-7	breast:	n/a	n/a
15	SETDB1	chr6:144199727-144200047	U2OS	brain:	n/a	n/a
16	STAT3	chr6:144199093-144199192	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr6:144199620-144199800	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144202300..144204101-chr6:144219529..144221247,2	K562	blood:
2	chr6:144196775..144199655-chr6:144207316..144209888,2	K562	blood:
3	chr6:144200238..144202925-chr6:144208193..144210928,2	K562	blood:

No data

Variant related genes	Relation type
ZC2HC1B	TF binding region
ENSG00000118491	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58374547	chr6:144199039-144199040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538659556	chr6:144199158-144199159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114293174	chr6:144199212-144199213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565990193	chr6:144199214-144199215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536538867	chr6:144199306-144199307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111704093	chr6:144199311-144199312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569812611	chr6:144199382-144199383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148915134	chr6:144199399-144199400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374313565	chr6:144199468-144199469	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143577250	chr6:144199471-144199472	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76305026	chr6:144199482-144199483	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117895348	chr6:144199530-144199531	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553738843	chr6:144199563-144199564	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572695322	chr6:144199569-144199570	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147983146	chr6:144199592-144199593	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561364252	chr6:144199596-144199597	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74393807	chr6:144199616-144199617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79439304	chr6:144199620-144199621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6936757	chr6:144199651-144199652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372323157	chr6:144199663-144199664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190545924	chr6:144199667-144199668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550049989	chr6:144199680-144199681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529989133	chr6:144199686-144199687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548453273	chr6:144199841-144199842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569807470	chr6:144199931-144199932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537251458	chr6:144199975-144199976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558299568	chr6:144199998-144199999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140667711	chr6:144200047-144200048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538727351	chr6:144200056-144200057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553798250	chr6:144200069-144200070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183151261	chr6:144200077-144200078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542616064	chr6:144200142-144200143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187556048	chr6:144200143-144200144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115291819	chr6:144200155-144200156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544046210	chr6:144200156-144200157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144694766	chr6:144200170-144200171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190126502	chr6:144200171-144200172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111382980	chr6:144200232-144200233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75287197	chr6:144200249-144200250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529700392	chr6:144200250-144200251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552332349	chr6:144200255-144200256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369484153	chr6:144200258-144200259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78283117	chr6:144200275-144200276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547825299	chr6:144200431-144200432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538624829	chr6:144200497-144200498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530702223	chr6:144200522-144200523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562508954	chr6:144200523-144200524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183002813	chr6:144200554-144200555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374942526	chr6:144200590-144200591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570311780	chr6:144200630-144200631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
2	chr6:144186000-144223000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:144187600-144199400	Weak transcription	Left Ventricle	heart
4	chr6:144198600-144200200	Enhancers	Placenta	Placenta
5	chr6:144199000-144200000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:144199400-144199600	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr6:144199400-144199600	ZNF genes & repeats	Left Ventricle	heart
8	chr6:144199400-144200000	Enhancers	Hela-S3	cervix
9	chr6:144202800-144204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:144203200-144204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:144203600-144204000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:144203600-144204000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:144203800-144204000	Enhancers	Stomach Mucosa	stomach
14	chr6:144203800-144207200	Enhancers	Fetal Muscle Leg	muscle
15	chr6:144204000-144204600	Enhancers	Fetal Stomach	stomach
16	chr6:144204200-144204600	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:144204600-144205000	Weak transcription	Fetal Stomach	stomach
18	chr6:144204800-144220800	Weak transcription	Primary B cells from cord blood	blood
19	chr6:144205000-144205800	Enhancers	Fetal Stomach	stomach
20	chr6:144205200-144206000	Enhancers	Fetal Lung	lung
21	chr6:144205400-144205600	Active TSS	Fetal Brain Male	brain

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