Variant report

Variant	esv3390252
Chromosome Location	chr6:24683984-24685564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:24684032-24684036	K562	blood:	n/a	n/a
2	ATF1	chr6:24683842-24684200	K562	blood:	n/a	n/a
3	ATF2	chr6:24683740-24684160	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:24683731-24684288	H1-hESC	embryonic stem cell:	n/a	n/a
5	CCNT2	chr6:24684151-24684351	K562	blood:	n/a	n/a
6	CEBPB	chr6:24683949-24684042	K562	blood:	n/a	n/a
7	CEBPD	chr6:24683922-24684271	K562	blood:	n/a	n/a
8	EP300	chr6:24684834-24684902	K562	blood:	n/a	n/a
9	EP300	chr6:24683838-24684568	K562	blood:	n/a	n/a
10	GATA2	chr6:24683929-24684193	SH-SY5Y	brain:	n/a	n/a
11	GTF2F1	chr6:24684235-24684340	H1-hESC	embryonic stem cell:	n/a	n/a
12	IRF1	chr6:24684011-24684245	K562	blood:	n/a	chr6:24684154-24684166
13	JUN	chr6:24683919-24684293	K562	blood:	n/a	n/a
14	JUND	chr6:24683836-24684034	HepG2	liver:	n/a	n/a
15	JUND	chr6:24683843-24684210	K562	blood:	n/a	n/a
16	MAZ	chr6:24684016-24684036	K562	blood:	n/a	n/a
17	MYC	chr6:24684000-24684032	K562	blood:	n/a	n/a
18	NANOG	chr6:24683761-24684185	H1-hESC	embryonic stem cell:	n/a	chr6:24684152-24684166
19	NANOG	chr6:24683856-24684199	H1-hESC	embryonic stem cell:	n/a	chr6:24684152-24684166
20	RCOR1	chr6:24683854-24684202	K562	blood:	n/a	n/a
21	RFX5	chr6:24684825-24684930	K562	blood:	n/a	n/a
22	SP1	chr6:24683803-24684369	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr6:24683833-24684267	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr6:24683846-24684156	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAL1	chr6:24683909-24684207	K562	blood:	n/a	n/a
26	TBL1XR1	chr6:24684833-24684836	K562	blood:	n/a	n/a
27	TBL1XR1	chr6:24683945-24684299	K562	blood:	n/a	n/a
28	TCF12	chr6:24683831-24684181	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr6:24683770-24684299	K562	blood:	n/a	n/a
30	ZC3H11A	chr6:24684156-24684346	K562	blood:	n/a	n/a
31	ZNF263	chr6:24683831-24684376	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32926743..32929840-chr6:24682818..24685708,4	K562	blood:
2	chr6:24596221..24598717-chr6:24684990..24687804,2	MCF-7	breast:
3	chr6:24578930..24581415-chr6:24684398..24686867,2	K562	blood:
4	chr22:32928032..32930048-chr6:24682726..24684882,3	MCF-7	breast:
5	chr6:24683018..24685866-chr6:24687699..24690360,3	MCF-7	breast:

No data

Variant related genes	Relation type
ACOT13	TF binding region
ENSG00000218186	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386698116	chr6:24683985-24683986	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202182182	chr6:24683986-24683987	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374433626	chr6:24683987-24683988	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73392564	chr6:24683992-24683993	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376602558	chr6:24684002-24684003	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199681614	chr6:24684004-24684005	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530928509	chr6:24684052-24684053	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536125425	chr6:24684069-24684070	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376227783	chr6:24684086-24684087	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9461049	chr6:24684152-24684153	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544738413	chr6:24684325-24684326	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561348521	chr6:24684366-24684367	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575123188	chr6:24684367-24684368	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181064083	chr6:24684390-24684391	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560642221	chr6:24684510-24684511	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532841306	chr6:24684538-24684539	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552551905	chr6:24684546-24684547	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs116094765	chr6:24684569-24684570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78725635	chr6:24684614-24684615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533266211	chr6:24684617-24684618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112494655	chr6:24684622-24684623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567006032	chr6:24684651-24684652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535908983	chr6:24684663-24684664	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191548630	chr6:24684716-24684717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566290874	chr6:24684722-24684723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150958350	chr6:24684766-24684767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148270955	chr6:24684777-24684778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140759045	chr6:24684778-24684779	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs60466800	chr6:24684783-24684784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs386698117	chr6:24684784-24684785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538965042	chr6:24684793-24684794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558571170	chr6:24684794-24684795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1555088	chr6:24684796-24684797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs1555087	chr6:24684819-24684820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs182874355	chr6:24684861-24684862	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540739273	chr6:24684868-24684869	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555313558	chr6:24684887-24684888	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs150096982	chr6:24684916-24684917	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575009960	chr6:24684934-24684935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186390660	chr6:24684939-24684940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140907934	chr6:24684941-24684942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149345935	chr6:24684943-24684944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138026615	chr6:24684945-24684946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58798042	chr6:24684946-24684947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199933141	chr6:24684947-24684948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114075206	chr6:24684948-24684949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200646147	chr6:24684951-24684952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1555086	chr6:24685021-24685022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs577355230	chr6:24685035-24685036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs3901428	chr6:24685067-24685068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24668200-24699800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:24668800-24691800	Weak transcription	Psoas Muscle	Psoas
3	chr6:24669000-24686400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:24669000-24690400	Weak transcription	Gastric	stomach
5	chr6:24669000-24693000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:24669000-24701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:24669200-24686200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:24669200-24690800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:24669400-24687600	Weak transcription	Left Ventricle	heart
10	chr6:24669400-24701600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:24671400-24687200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:24674200-24700000	Weak transcription	Fetal Lung	lung
13	chr6:24674600-24703400	Weak transcription	Aorta	Aorta
14	chr6:24674800-24698200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:24674800-24702200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:24674800-24702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:24674800-24702600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:24676600-24702600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:24678200-24699600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:24678200-24702600	Weak transcription	HSMMtube	muscle
21	chr6:24678800-24687000	Weak transcription	Placenta	Placenta
22	chr6:24678800-24701200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:24678800-24701600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:24679400-24700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:24679600-24699800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:24679800-24691800	Weak transcription	Right Ventricle	heart
27	chr6:24680000-24705400	Weak transcription	Colonic Mucosa	Colon
28	chr6:24680600-24702600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:24680800-24701600	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:24681200-24686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:24681200-24687400	Weak transcription	Liver	Liver
32	chr6:24681200-24705600	Weak transcription	Ovary	ovary
33	chr6:24681400-24701800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:24682200-24686000	Weak transcription	Right Atrium	heart
35	chr6:24682400-24684200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:24682400-24703000	Weak transcription	Lung	lung
37	chr6:24682600-24687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:24682800-24684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:24682800-24687400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:24682800-24691000	Weak transcription	Thymus	Thymus
41	chr6:24682800-24699000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:24682800-24701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:24682800-24702200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:24682800-24702200	Weak transcription	Fetal Stomach	stomach
45	chr6:24683000-24684000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:24683000-24701400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:24683000-24702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:24683200-24687200	Weak transcription	Primary B cells from cord blood	blood
49	chr6:24683400-24684400	Enhancers	HepG2	liver
50	chr6:24683400-24684800	Enhancers	H1 Cell Line	embryonic stem cell

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