Variant report

Variant	esv3440457
Chromosome Location	chr6:27004898-27007146
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	ARID3A	chr6:27006350-27006636	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:27006293-27006548	HepG2	liver:	n/a	n/a
3	CTCF	chr6:27006878-27006915	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:27007130-27007243	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:27006916-27006927	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:27006905-27006975	LNCaP	prostate:	n/a	n/a
7	EP300	chr6:27006200-27006676	HepG2	liver:	n/a	n/a
8	EP300	chr6:27006223-27006649	HepG2	liver:	n/a	n/a
9	FOXA2	chr6:27006224-27006568	HepG2	liver:	n/a	n/a
10	HDAC2	chr6:27006270-27006599	HepG2	liver:	n/a	n/a
11	HNF4G	chr6:27006221-27006534	HepG2	liver:	n/a	chr6:27006376-27006389 chr6:27006376-27006389 chr6:27006374-27006389
12	MAZ	chr6:27006484-27006548	HepG2	liver:	n/a	n/a
13	MYC	chr6:27006962-27006975	MCF-7	breast:	n/a	n/a
14	MYC	chr6:27006946-27006953	MCF-7	breast:	n/a	n/a
15	MYC	chr6:27006861-27006924	MCF-7	breast:	n/a	n/a
16	NR2F2	chr6:27006210-27006712	HepG2	liver:	n/a	n/a
17	NR2F2	chr6:27006192-27006771	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:27007055-27007202	Gliobla	brain:	n/a	n/a
19	RXRA	chr6:27006300-27006643	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26999703..27003607-chr6:27003699..27006500,4	K562	blood:
2	chr6:27003462..27005530-chr6:27009729..27011589,3	K562	blood:
3	chr6:26987925..26989603-chr6:27006562..27008262,2	MCF-7	breast:

Variant related genes	Relation type
VN1R12P	TF binding region
ENSG00000220581	chromatin interactions
ENSG00000224843	chromatin interactions
ENSG00000238621	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76222803	chr6:27004927-27004928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141881165	chr6:27005008-27005009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528688394	chr6:27005042-27005043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532542361	chr6:27005058-27005059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144767380	chr6:27005086-27005087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376303717	chr6:27005092-27005093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571674315	chr6:27005128-27005129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73399191	chr6:27005129-27005130	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs181837427	chr6:27005183-27005184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369323216	chr6:27005189-27005190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79259397	chr6:27005197-27005198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535397182	chr6:27005199-27005200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555249482	chr6:27005205-27005206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572157729	chr6:27005206-27005207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186493320	chr6:27005289-27005290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4278000	chr6:27005331-27005332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150211086	chr6:27005346-27005347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79457923	chr6:27005374-27005375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114402475	chr6:27005383-27005384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529603331	chr6:27005461-27005462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139049530	chr6:27005477-27005478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575004890	chr6:27005498-27005499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142954768	chr6:27005544-27005545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528658319	chr6:27005545-27005546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536533388	chr6:27005556-27005557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551700957	chr6:27005606-27005607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571701607	chr6:27005632-27005633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530943636	chr6:27005665-27005666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147431492	chr6:27005669-27005670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567279485	chr6:27005704-27005705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192084451	chr6:27005752-27005753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555212694	chr6:27005754-27005755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565850610	chr6:27005783-27005784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7757680	chr6:27005840-27005841	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563894686	chr6:27005929-27005930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368758414	chr6:27005989-27005990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9348748	chr6:27005998-27005999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111707316	chr6:27006005-27006006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377519037	chr6:27006007-27006008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571413890	chr6:27006008-27006009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370697641	chr6:27006015-27006016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374348985	chr6:27006016-27006017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs70981131	chr6:27006025-27006026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557694856	chr6:27006027-27006028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567516032	chr6:27006034-27006035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367881160	chr6:27006051-27006052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371658676	chr6:27006052-27006053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577663984	chr6:27006061-27006062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374109774	chr6:27006071-27006072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72223079	chr6:27006078-27006079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26991800-27012000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:27003600-27008000	Weak transcription	K562	blood
3	chr6:27005200-27005600	Enhancers	HepG2	liver
4	chr6:27005600-27006000	Weak transcription	HepG2	liver
5	chr6:27006000-27009200	Enhancers	HepG2	liver
6	chr6:27006200-27007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:27006800-27007000	Enhancers	GM12878-XiMat	blood
8	chr6:27007000-27008200	Weak transcription	GM12878-XiMat	blood

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