Variant report

Variant	esv3514395
Chromosome Location	chr6:150643343-150647878
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150642390..150644728-chr6:150645013..150646951,2	K562	blood:
2	chr6:150637450..150641855-chr6:150642003..150645154,6	K562	blood:
3	chr6:150514785..150516493-chr6:150643803..150645499,2	K562	blood:
4	chr6:150500428..150502661-chr6:150644242..150645820,2	K562	blood:
5	chr6:150644840..150646705-chr6:150652961..150654511,2	K562	blood:
6	chr6:150642041..150644950-chr6:150645013..150647968,3	K562	blood:
7	chr6:150642390..150644728-chr6:150645013..150646951,2	K562	blood:
8	chr6:150630670..150634449-chr6:150639443..150643580,5	K562	blood:
9	chr6:150638163..150639671-chr6:150643884..150646332,2	MCF-7	breast:
10	chr12:120729257..120730114-chr6:150647863..150648380,2	Hela-S3	cervix:
11	chr6:150586437..150588677-chr6:150642579..150644863,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202538	chromatin interactions
ENSG00000201628	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544667819	chr6:150643344-150643345	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186261989	chr6:150643400-150643401	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77854963	chr6:150643420-150643421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554392267	chr6:150643421-150643422	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561068722	chr6:150643424-150643425	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529997001	chr6:150643430-150643431	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190717122	chr6:150643432-150643433	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538365090	chr6:150643435-150643436	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536868142	chr6:150643473-150643474	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1890521	chr6:150643476-150643477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576728312	chr6:150643568-150643569	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182912900	chr6:150643576-150643577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558190632	chr6:150643589-150643590	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2153205	chr6:150643601-150643602	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564928473	chr6:150643610-150643611	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62441217	chr6:150643640-150643641	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112438617	chr6:150643697-150643698	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143814150	chr6:150643708-150643709	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1890522	chr6:150643730-150643731	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186463552	chr6:150643735-150643736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558187176	chr6:150643792-150643793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115946505	chr6:150643828-150643829	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540716346	chr6:150643898-150643899	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561263297	chr6:150643948-150643949	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560916365	chr6:150644015-150644016	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12527319	chr6:150644030-150644031	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542293723	chr6:150644033-150644034	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543675273	chr6:150644059-150644060	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371129782	chr6:150644078-150644079	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532306926	chr6:150644084-150644085	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551321349	chr6:150644093-150644094	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147250743	chr6:150644142-150644143	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527765415	chr6:150644145-150644146	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559070282	chr6:150644161-150644162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544054414	chr6:150644183-150644184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563927216	chr6:150644184-150644185	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116487057	chr6:150644190-150644191	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528067791	chr6:150644198-150644199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190837116	chr6:150644230-150644231	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544565284	chr6:150644240-150644241	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183841679	chr6:150644248-150644249	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532843717	chr6:150644260-150644261	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73779957	chr6:150644268-150644269	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556766671	chr6:150644269-150644270	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569922353	chr6:150644277-150644278	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140779037	chr6:150644283-150644284	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558723582	chr6:150644285-150644286	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188020143	chr6:150644286-150644287	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144727566	chr6:150644377-150644378	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554291635	chr6:150644380-150644381	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 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
Pancreatic cancer	17952125	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150640600-150643400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr6:150641200-150645000	Enhancers	K562	blood
3	chr6:150641800-150644400	Weak transcription	Left Ventricle	heart
4	chr6:150642000-150646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:150642000-150648200	Weak transcription	Aorta	Aorta
6	chr6:150642000-150648400	Weak transcription	Right Ventricle	heart
7	chr6:150642200-150643600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:150642600-150646400	Enhancers	Fetal Muscle Leg	muscle
9	chr6:150642600-150647400	Enhancers	Psoas Muscle	Psoas
10	chr6:150642800-150644800	Enhancers	Placenta	Placenta
11	chr6:150642800-150646600	Enhancers	Adipose Nuclei	Adipose
12	chr6:150643200-150643600	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:150643200-150643600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr6:150643200-150643600	Enhancers	Spleen	Spleen
15	chr6:150643200-150644800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:150643200-150646200	Enhancers	Lung	lung
17	chr6:150643400-150644200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr6:150643400-150644600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr6:150643600-150643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:150643600-150644200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:150643600-150645800	Weak transcription	Spleen	Spleen
22	chr6:150643600-150646800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:150643800-150648400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:150644000-150644200	Bivalent Enhancer	HUVEC	blood vessel
25	chr6:150644000-150644600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:150644200-150646400	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:150644200-150646800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:150644400-150644800	Enhancers	Left Ventricle	heart
29	chr6:150644600-150645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:150644800-150646000	Weak transcription	Left Ventricle	heart
31	chr6:150645000-150647800	Weak transcription	K562	blood
32	chr6:150645200-150645600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:150645200-150645600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:150645200-150645600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:150645200-150646400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:150645200-150646800	Enhancers	HMEC	breast
37	chr6:150645200-150647200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:150645400-150647000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:150645600-150646400	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:150645600-150646400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:150645600-150646600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:150645600-150646800	Enhancers	NHEK	skin
43	chr6:150645600-150647200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:150645600-150647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:150645600-150663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:150645800-150646200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr6:150645800-150646400	Enhancers	Spleen	Spleen
48	chr6:150645800-150646600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:150646000-150646400	Enhancers	Left Ventricle	heart
50	chr6:150646200-150646400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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