Variant report

Variant	esv3451768
Chromosome Location	chr6:149964976-149965598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149965409..149968620-chr6:150010826..150012378,3	K562	blood:
2	chr6:149964456..149967231-chr6:150038476..150041371,2	MCF-7	breast:
3	chr6:149950061..149951904-chr6:149964995..149967611,2	MCF-7	breast:
4	chr6:149957420..149961010-chr6:149962666..149965465,3	K562	blood:
5	chr6:149962904..149965459-chr6:150070151..150071735,2	K562	blood:
6	chr6:149907651..149911432-chr6:149965419..149969520,3	K562	blood:

Variant related genes	Relation type
ENSG00000131023	chromatin interactions
ENSG00000120265	chromatin interactions
ENSG00000120253	chromatin interactions
ENSG00000186625	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528589215	chr6:149964981-149964982	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540296356	chr6:149964983-149964984	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201614949	chr6:149964984-149964985	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs28421449	chr6:149964985-149964986	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556297570	chr6:149964987-149964988	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs78430064	chr6:149964993-149964994	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs62439813	chr6:149964995-149964996	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs190875956	chr6:149965010-149965011	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs62439814	chr6:149965036-149965037	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs183421804	chr6:149965057-149965058	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs540126133	chr6:149965099-149965100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs553011980	chr6:149965144-149965145	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs566416371	chr6:149965148-149965149	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535218819	chr6:149965156-149965157	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs566506328	chr6:149965181-149965182	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs115425995	chr6:149965183-149965184	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs575230301	chr6:149965193-149965194	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs73779534	chr6:149965200-149965201	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557524881	chr6:149965219-149965220	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs577558725	chr6:149965295-149965296	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs540097484	chr6:149965297-149965298	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs559328310	chr6:149965319-149965320	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs116094965	chr6:149965327-149965328	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs559588777	chr6:149965328-149965329	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs541975155	chr6:149965366-149965367	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs187785672	chr6:149965412-149965413	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs560398974	chr6:149965425-149965426	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs78576461	chr6:149965426-149965427	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs199995379	chr6:149965458-149965459	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs551244608	chr6:149965495-149965496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528321785	chr6:149965535-149965536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191090599	chr6:149965576-149965577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149915600-149968400	Weak transcription	Pancreas	Pancrea
2	chr6:149915600-149969200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:149915800-149969200	Weak transcription	Gastric	stomach
4	chr6:149918800-149967600	Weak transcription	HUVEC	blood vessel
5	chr6:149918800-149967600	Weak transcription	NHLF	lung
6	chr6:149924800-149967400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:149924800-149968000	Weak transcription	Fetal Kidney	kidney
8	chr6:149925200-149967000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:149935000-149967000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:149935200-149966200	Weak transcription	Hela-S3	cervix
11	chr6:149935200-149967800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:149935200-149968000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:149935200-149969000	Weak transcription	Small Intestine	intestine
14	chr6:149935400-149968000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:149935600-149968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:149935600-149968400	Weak transcription	Esophagus	oesophagus
17	chr6:149935800-149968600	Weak transcription	Aorta	Aorta
18	chr6:149936000-149967000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:149936000-149967200	Weak transcription	HMEC	breast
20	chr6:149936000-149968000	Weak transcription	Right Ventricle	heart
21	chr6:149936800-149969000	Weak transcription	Lung	lung
22	chr6:149937400-149968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:149941400-149967600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:149941400-149967600	Weak transcription	Fetal Brain Male	brain
25	chr6:149941400-149968000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:149942200-149967600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:149943400-149968000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:149944800-149969400	Weak transcription	Spleen	Spleen
29	chr6:149947000-149968200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:149949600-149967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:149950600-149968000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:149950600-149968000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:149950600-149968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:149950800-149967200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:149950800-149968000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:149950800-149968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:149951200-149967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:149951200-149968000	Weak transcription	HSMM	muscle
39	chr6:149951400-149967200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:149952000-149967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:149952200-149967600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:149952200-149968200	Weak transcription	Fetal Intestine Large	intestine
43	chr6:149952400-149967800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:149952600-149967600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:149953800-149966800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:149954000-149967200	Weak transcription	Fetal Brain Female	brain
47	chr6:149954000-149967400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:149954000-149968000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:149954000-149968200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:149954200-149967400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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