Variant report

Variant	esv3331599
Chromosome Location	chr6:150083596-150083821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150037654..150039450-chr6:150083090..150085436,2	K562	blood:
2	chr6:150081562..150084167-chr6:150089539..150091246,2	K562	blood:
3	chr6:150067420..150070496-chr6:150080742..150084975,5	MCF-7	breast:
4	chr6:150083160..150085138-chr6:150089729..150091579,2	K562	blood:
5	chr6:150068048..150069727-chr6:150083156..150084821,2	MCF-7	breast:
6	chr6:150071337..150080563-chr6:150080588..150087592,16	K562	blood:
7	chr6:150070911..150073145-chr6:150082041..150085083,3	MCF-7	breast:
8	chr6:150081430..150084615-chr6:150085196..150088409,5	K562	blood:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2065664	chr6:150083621-150083622	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114968604	chr6:150083646-150083647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs28394085	chr6:150083647-150083648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs71830267	chr6:150083655-150083656	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs112627872	chr6:150083665-150083666	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs372465246	chr6:150083670-150083671	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs71010873	chr6:150083684-150083685	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs72158810	chr6:150083685-150083686	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs369814226	chr6:150083690-150083691	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373278817	chr6:150083692-150083693	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374152099	chr6:150083694-150083695	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs377346796	chr6:150083702-150083703	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373082116	chr6:150083726-150083727	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184610161	chr6:150083737-150083738	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371747719	chr6:150083741-150083742	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs67143527	chr6:150083747-150083748	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548314258	chr6:150083768-150083769	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs189979755	chr6:150083769-150083770	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs181653447	chr6:150083787-150083788	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs377232494	chr6:150083791-150083792	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs370486191	chr6:150083792-150083793	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373216499	chr6:150083793-150083794	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377326926	chr6:150083794-150083795	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs371295837	chr6:150083795-150083796	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187161121	chr6:150083797-150083798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs190860182	chr6:150083801-150083802	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565585539	chr6:150083807-150083808	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551196120	chr6:150083808-150083809	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150071800-150092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:150071800-150092800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:150071800-150100200	Weak transcription	Gastric	stomach
4	chr6:150072000-150086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:150072000-150087000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:150072000-150087200	Weak transcription	Stomach Mucosa	stomach
7	chr6:150072000-150094200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:150072000-150111000	Weak transcription	Fetal Kidney	kidney
9	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
10	chr6:150072200-150087000	Weak transcription	Fetal Lung	lung
11	chr6:150072200-150087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:150072200-150087200	Weak transcription	Primary T cells from cord blood	blood
13	chr6:150072200-150087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:150072200-150087200	Weak transcription	NH-A	brain
15	chr6:150072400-150086800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:150072400-150087200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:150072400-150104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:150072400-150111400	Weak transcription	Colonic Mucosa	Colon
19	chr6:150072600-150087000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:150072600-150087200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:150072600-150087200	Weak transcription	NHEK	skin
22	chr6:150072800-150087200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:150073000-150086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:150073000-150086800	Weak transcription	Fetal Brain Female	brain
25	chr6:150073000-150087200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:150073000-150094400	Weak transcription	Lung	lung
27	chr6:150073200-150087200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:150073200-150087200	Weak transcription	HUVEC	blood vessel
29	chr6:150073800-150086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:150073800-150087200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:150073800-150087200	Weak transcription	NHLF	lung
32	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
33	chr6:150074000-150087200	Weak transcription	Hela-S3	cervix
34	chr6:150074200-150101000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:150075800-150094800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:150077000-150085600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:150077000-150115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:150077200-150087200	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:150077200-150118400	Weak transcription	Pancreas	Pancrea
40	chr6:150077400-150084600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:150077400-150086800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:150077400-150087200	Weak transcription	Brain Anterior Caudate	brain
43	chr6:150077400-150087200	Weak transcription	Brain Substantia Nigra	brain
44	chr6:150077400-150142400	Weak transcription	Fetal Heart	heart
45	chr6:150077600-150087200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:150077800-150118400	Weak transcription	Psoas Muscle	Psoas
47	chr6:150078200-150092600	Weak transcription	Left Ventricle	heart
48	chr6:150078800-150086800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:150081000-150083800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:150081400-150083600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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