Variant report

Variant	esv3472294
Chromosome Location	chr6:24879027-24879501
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	GATA3	chr6:24879384-24880075	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr6:24879391-24880056	MCF-7	breast:	n/a	n/a
3	JUND	chr6:24879460-24879971	SK-N-SH	brain:	n/a	n/a
4	MAX	chr6:24879490-24880010	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:24879382-24880400	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:24879435-24880133	Hela-S3	cervix:	n/a	n/a
7	STAT1	chr6:24879456-24880165	Hela-S3	cervix:	n/a	chr6:24879895-24879907 chr6:24880076-24880090
8	TCF12	chr6:24879451-24879892	SK-N-SH	brain:	n/a	n/a
9	TCF7L2	chr6:24879449-24879931	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FAM65B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6918088	chr6:24879040-24879041	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564584411	chr6:24879101-24879102	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201661820	chr6:24879112-24879113	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62402004	chr6:24879113-24879114	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527835928	chr6:24879206-24879207	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368428635	chr6:24879217-24879218	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563782640	chr6:24879287-24879288	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190320404	chr6:24879329-24879330	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543800585	chr6:24879364-24879365	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563578321	chr6:24879388-24879389	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553016854	chr6:24879427-24879428	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs6456637	chr6:24879429-24879430	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577062514	chr6:24879448-24879449	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24843800-24879400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:24855200-24895000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:24856200-24882400	Weak transcription	NHLF	lung
4	chr6:24859400-24886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:24862800-24885600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:24862800-24887400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:24865600-24879600	Weak transcription	Brain Germinal Matrix	brain
8	chr6:24870400-24883800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:24871800-24886800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:24874800-24883200	Weak transcription	Brain Anterior Caudate	brain
11	chr6:24874800-24883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:24875400-24882000	Weak transcription	NHDF-Ad	bronchial
13	chr6:24875600-24886800	Weak transcription	Fetal Heart	heart
14	chr6:24875800-24887800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:24876000-24901800	Weak transcription	Spleen	Spleen
16	chr6:24876200-24882600	Weak transcription	HSMMtube	muscle
17	chr6:24876600-24880800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:24876800-24880600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:24877000-24879400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:24877000-24883000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:24877000-24888000	Genic enhancers	Primary T cells from cord blood	blood
22	chr6:24877200-24879200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:24877200-24879800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr6:24877200-24880400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr6:24877400-24879400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:24877400-24879600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:24877400-24879800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:24877400-24883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:24877400-24888000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:24877600-24880000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:24877600-24880200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:24877600-24881400	Weak transcription	Psoas Muscle	Psoas
33	chr6:24877800-24882000	Strong transcription	Primary B cells from cord blood	blood
34	chr6:24878000-24879600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:24878000-24879600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:24878000-24880200	Enhancers	Placenta	Placenta
37	chr6:24878200-24879200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:24878200-24879200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:24878200-24879400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:24878200-24879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:24878200-24879400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:24878200-24879600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:24878200-24879800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:24878200-24880200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:24878400-24879400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:24878400-24879400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:24878400-24879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:24878400-24881200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:24878400-24881800	Weak transcription	Fetal Thymus	thymus
50	chr6:24878400-24884000	Weak transcription	Esophagus	oesophagus

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