Variant report

Variant	esv3446736
Chromosome Location	chr6:165338062-165341060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164637205..164638102-chr6:165340164..165340958,2	MCF-7	breast:
2	chr6:165335824..165337632-chr6:165338882..165340730,2	K562	blood:
3	chr6:164767711..164769131-chr6:165340232..165341669,7	MCF-7	breast:
4	chr6:164768200..164769032-chr6:165340931..165341635,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569890793	chr6:165338083-165338084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181146259	chr6:165338090-165338091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537208153	chr6:165338095-165338096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563770621	chr6:165338184-165338185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527772930	chr6:165338185-165338186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549101753	chr6:165338220-165338221	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555274330	chr6:165338277-165338278	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567817989	chr6:165338367-165338368	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117004708	chr6:165338371-165338372	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116307394	chr6:165338386-165338387	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139121364	chr6:165338413-165338414	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs539387472	chr6:165338433-165338434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs557777245	chr6:165338478-165338479	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs574152293	chr6:165338500-165338501	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs149933495	chr6:165338534-165338535	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs115641054	chr6:165338543-165338544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs185339512	chr6:165338550-165338551	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs576514324	chr6:165338564-165338565	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs369285379	chr6:165338565-165338566	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs144929417	chr6:165338570-165338571	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs140925648	chr6:165338607-165338608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs544085856	chr6:165338634-165338635	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs562758995	chr6:165338672-165338673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs553536410	chr6:165338700-165338701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs150224888	chr6:165338735-165338736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs544945079	chr6:165338743-165338744	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs578057305	chr6:165338750-165338751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs143295490	chr6:165338782-165338783	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs188633968	chr6:165338801-165338802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564400885	chr6:165338813-165338814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114118431	chr6:165338840-165338841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531883669	chr6:165338848-165338849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376612439	chr6:165338869-165338870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180689195	chr6:165338882-165338883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146660136	chr6:165338897-165338898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115151198	chr6:165338915-165338916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186122729	chr6:165338916-165338917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533786518	chr6:165338920-165338921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140255461	chr6:165338928-165338929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143794444	chr6:165338948-165338949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115751392	chr6:165338990-165338991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537995078	chr6:165339018-165339019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9459252	chr6:165339031-165339032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373540995	chr6:165339038-165339039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386708305	chr6:165339061-165339062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201468865	chr6:165339063-165339064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563033169	chr6:165339067-165339068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377043118	chr6:165339068-165339069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200383825	chr6:165339070-165339071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76021391	chr6:165339074-165339075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165329200-165338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:165333200-165346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:165337400-165338800	Enhancers	Fetal Muscle Leg	muscle
4	chr6:165337800-165338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:165337800-165338600	Enhancers	Brain Anterior Caudate	brain
6	chr6:165337800-165338600	Enhancers	Psoas Muscle	Psoas
7	chr6:165337800-165339400	Enhancers	Fetal Brain Male	brain
8	chr6:165337800-165340400	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:165338000-165338200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:165338000-165338600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:165338000-165340200	Enhancers	Brain Germinal Matrix	brain
12	chr6:165338200-165338400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:165338200-165338400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:165338200-165338400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:165338200-165338400	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:165338200-165338600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr6:165338200-165338800	Enhancers	Brain Hippocampus Middle	brain
18	chr6:165338200-165341200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:165338200-165341400	Enhancers	Fetal Heart	heart
20	chr6:165338400-165338600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:165338400-165338600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:165338400-165338600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:165338400-165338800	Enhancers	Brain Substantia Nigra	brain
24	chr6:165338400-165338800	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:165338400-165338800	Enhancers	Fetal Stomach	stomach
26	chr6:165338400-165338800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr6:165338400-165339000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:165338600-165339000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:165338600-165339000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:165338600-165339600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:165338600-165339600	Weak transcription	Brain Anterior Caudate	brain
32	chr6:165338600-165339600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:165338600-165341200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:165338600-165341200	Weak transcription	Psoas Muscle	Psoas
35	chr6:165338800-165339000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:165338800-165339200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:165338800-165339200	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:165338800-165339400	Weak transcription	Brain Substantia Nigra	brain
39	chr6:165338800-165339800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:165338800-165340800	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:165338800-165341200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:165339000-165339600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:165339000-165340800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:165339000-165341000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:165339000-165341200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:165339200-165339800	Enhancers	Brain Hippocampus Middle	brain
47	chr6:165339200-165340000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:165339200-165340000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr6:165339200-165340000	ZNF genes & repeats	Fetal Kidney	kidney
50	chr6:165339200-165340000	Active TSS	Fetal Lung	lung

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