Variant report

Variant	esv2461232
Chromosome Location	chr6:74155322-74156916
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	EP300	chr6:74155740-74155749	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74155594..74157506-chr6:74160600..74162735,2	MCF-7	breast:
2	chr6:74153322..74156894-chr6:74159948..74162165,3	MCF-7	breast:

Variant related genes	Relation type
MB21D1	TF binding region
ENSG00000164430	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371707799	chr6:74155329-74155330	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs610913	chr6:74155346-74155347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs186630766	chr6:74155358-74155359	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369172604	chr6:74155392-74155393	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145259959	chr6:74155412-74155413	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549985083	chr6:74155463-74155464	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568261995	chr6:74155490-74155491	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2985419	chr6:74155491-74155492	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371723700	chr6:74155509-74155510	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200128400	chr6:74155544-74155545	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547391285	chr6:74155701-74155702	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566402544	chr6:74155775-74155776	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555106399	chr6:74155777-74155778	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374066898	chr6:74155799-74155800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533861385	chr6:74155805-74155806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144470366	chr6:74155812-74155813	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113548973	chr6:74155823-74155824	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538093651	chr6:74155831-74155832	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531928740	chr6:74155844-74155845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386702672	chr6:74155845-74155846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556287726	chr6:74155847-74155848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142585372	chr6:74155849-74155850	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541796890	chr6:74155882-74155883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62440612	chr6:74155891-74155892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183777119	chr6:74155896-74155897	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140829785	chr6:74155909-74155910	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143455825	chr6:74155911-74155912	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188935219	chr6:74155925-74155926	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192930802	chr6:74155926-74155927	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574855592	chr6:74155961-74155962	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184373699	chr6:74156030-74156031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188686727	chr6:74156031-74156032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201312391	chr6:74156053-74156054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201275191	chr6:74156054-74156055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55833644	chr6:74156072-74156073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534250794	chr6:74156086-74156087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191770095	chr6:74156107-74156108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201017129	chr6:74156153-74156154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150554010	chr6:74156166-74156167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75204178	chr6:74156167-74156168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62440615	chr6:74156171-74156172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6900758	chr6:74156189-74156190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6900766	chr6:74156201-74156202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6900772	chr6:74156213-74156214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62440616	chr6:74156220-74156221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62440617	chr6:74156223-74156224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62440618	chr6:74156225-74156226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62440619	chr6:74156230-74156231	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62440620	chr6:74156231-74156232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6901202	chr6:74156238-74156239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:74125400-74160800	Weak transcription	Gastric	stomach
3	chr6:74127400-74155800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:74129000-74160600	Weak transcription	HSMMtube	muscle
5	chr6:74129200-74160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:74129800-74160200	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:74129800-74160200	Weak transcription	NHLF	lung
8	chr6:74130000-74160600	Weak transcription	NHEK	skin
9	chr6:74130200-74159400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:74130200-74160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:74130400-74159400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:74130400-74160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:74130600-74160400	Weak transcription	Esophagus	oesophagus
14	chr6:74130600-74160800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:74131800-74160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:74132200-74160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:74132200-74160400	Weak transcription	Left Ventricle	heart
18	chr6:74132200-74160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:74132800-74158400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:74133200-74160200	Weak transcription	Stomach Mucosa	stomach
21	chr6:74133400-74159400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:74133600-74158600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:74135200-74159400	Weak transcription	Colonic Mucosa	Colon
24	chr6:74135200-74160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:74136000-74158200	Weak transcription	Small Intestine	intestine
26	chr6:74136400-74159600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:74137200-74155800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:74138600-74159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:74142400-74160800	Weak transcription	Liver	Liver
30	chr6:74144200-74159200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:74144400-74160200	Weak transcription	Placenta	Placenta
32	chr6:74145000-74159400	Weak transcription	Primary T cells from cord blood	blood
33	chr6:74145000-74160800	Weak transcription	Pancreas	Pancrea
34	chr6:74146800-74160600	Weak transcription	Aorta	Aorta
35	chr6:74147800-74156600	Weak transcription	Fetal Intestine Small	intestine
36	chr6:74148000-74155800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:74148000-74160800	Weak transcription	NH-A	brain
38	chr6:74148200-74159400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:74148800-74157000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:74149800-74160600	Weak transcription	Ovary	ovary
41	chr6:74150200-74155400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:74150200-74159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:74150200-74160400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:74150200-74160600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:74150200-74160800	Weak transcription	Fetal Intestine Large	intestine
46	chr6:74150800-74155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:74151200-74160400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:74151400-74159600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:74151600-74159800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:74151600-74160200	Weak transcription	Muscle Satellite Cultured Cells	--

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