Variant report

Variant	esv16338
Chromosome Location	chr6:25312436-25315638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25314031..25316618-chr6:25318937..25320645,2	MCF-7	breast:
2	chr6:25298383..25300116-chr6:25311036..25313925,3	MCF-7	breast:
3	chr6:25307442..25309429-chr6:25310773..25313440,2	K562	blood:
4	chr6:25278102..25281759-chr6:25312379..25314512,3	MCF-7	breast:
5	chr6:25314690..25316229-chr6:25317879..25319908,2	K562	blood:

Variant related genes	Relation type
ENSG00000079691	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144220706	chr6:25312436-25312437	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386698164	chr6:25312449-25312450	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184331426	chr6:25312459-25312460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6938281	chr6:25312488-25312489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200817704	chr6:25312639-25312640	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573221019	chr6:25312651-25312652	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545250507	chr6:25312655-25312656	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529365386	chr6:25312664-25312665	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531057536	chr6:25312689-25312690	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9295654	chr6:25312755-25312756	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs189996323	chr6:25312775-25312776	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147738684	chr6:25312778-25312779	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548987485	chr6:25312861-25312862	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9467466	chr6:25312915-25312916	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs112539118	chr6:25312925-25312926	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9461132	chr6:25312928-25312929	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562268368	chr6:25313014-25313015	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571560880	chr6:25313031-25313032	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181294457	chr6:25313056-25313057	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35960509	chr6:25313134-25313135	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55803654	chr6:25313142-25313143	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367715744	chr6:25313143-25313144	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189685860	chr6:25313144-25313145	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55806424	chr6:25313145-25313146	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs997325	chr6:25313146-25313147	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs997324	chr6:25313147-25313148	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374231997	chr6:25313150-25313151	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78575915	chr6:25313152-25313153	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2328852	chr6:25313153-25313154	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574094974	chr6:25313170-25313171	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9461134	chr6:25313174-25313175	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2252012	chr6:25313190-25313191	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572860947	chr6:25313202-25313203	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545000149	chr6:25313232-25313233	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565266033	chr6:25313257-25313258	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9461135	chr6:25313268-25313269	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544807239	chr6:25313328-25313329	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561298371	chr6:25313342-25313343	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373433883	chr6:25313415-25313416	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9461136	chr6:25313416-25313417	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115438480	chr6:25313419-25313420	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559483318	chr6:25313432-25313433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56193761	chr6:25313435-25313436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369043408	chr6:25313486-25313487	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528137683	chr6:25313511-25313512	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150241333	chr6:25313623-25313624	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377253262	chr6:25313624-25313625	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560088544	chr6:25313629-25313630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9379752	chr6:25313698-25313699	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189009803	chr6:25313709-25313710	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25290400-25313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:25301400-25313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:25302000-25312800	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:25303200-25314800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:25303400-25315400	Weak transcription	Fetal Kidney	kidney
6	chr6:25305000-25324400	Weak transcription	Left Ventricle	heart
7	chr6:25306600-25331400	Weak transcription	Spleen	Spleen
8	chr6:25308600-25312600	Weak transcription	Fetal Heart	heart
9	chr6:25309200-25313400	Weak transcription	Ovary	ovary
10	chr6:25310000-25312600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:25310200-25313000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:25310200-25313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:25310200-25313800	Enhancers	Fetal Intestine Large	intestine
14	chr6:25310200-25314200	Enhancers	Fetal Intestine Small	intestine
15	chr6:25310200-25316800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:25310400-25312600	Enhancers	NHDF-Ad	bronchial
17	chr6:25310400-25312800	Enhancers	HMEC	breast
18	chr6:25310400-25313800	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:25310400-25319400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:25310800-25315000	Weak transcription	Brain Anterior Caudate	brain
21	chr6:25311000-25312800	Enhancers	NHEK	skin
22	chr6:25311200-25312600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:25311200-25314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:25311400-25312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:25311400-25313800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:25311400-25313800	Enhancers	Stomach Mucosa	stomach
27	chr6:25311400-25313800	Enhancers	HSMM	muscle
28	chr6:25311400-25314400	Enhancers	Osteobl	bone
29	chr6:25311600-25312600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:25311600-25313000	Flanking Active TSS	Hela-S3	cervix
31	chr6:25311600-25313200	Enhancers	HSMMtube	muscle
32	chr6:25311600-25313200	Enhancers	NHLF	lung
33	chr6:25311600-25313400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:25311600-25313800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:25311600-25313800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:25311600-25313800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:25311600-25313800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:25311600-25313800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:25311600-25313800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:25311600-25313800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr6:25311600-25313800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:25311600-25314000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:25311600-25314200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:25311600-25314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:25311600-25314400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:25311600-25315400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:25311600-25317200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:25311600-25317200	Enhancers	Fetal Lung	lung
49	chr6:25311800-25312600	Enhancers	Fetal Thymus	thymus
50	chr6:25311800-25312600	Flanking Active TSS	A549	lung

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