Variant report

Variant	esv3328225
Chromosome Location	chr6:46005893-46010391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:46002982..46005578-chr6:46009037..46013212,3	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539238796	chr6:46005927-46005928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368115493	chr6:46005940-46005941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557940358	chr6:46005948-46005949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187249632	chr6:46005998-46005999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531440896	chr6:46006032-46006033	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537170901	chr6:46006043-46006044	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555028920	chr6:46006086-46006087	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573664303	chr6:46006097-46006098	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192869368	chr6:46006177-46006178	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553701052	chr6:46006216-46006217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578260633	chr6:46006249-46006250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545233228	chr6:46006265-46006266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563912606	chr6:46006324-46006325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373613127	chr6:46006339-46006340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543089704	chr6:46006386-46006387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138912685	chr6:46006405-46006406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62400490	chr6:46006472-46006473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546629368	chr6:46006525-46006526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79278307	chr6:46006537-46006538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143738230	chr6:46006558-46006559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185787185	chr6:46006590-46006591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551257798	chr6:46006595-46006596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569849201	chr6:46006618-46006619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536883590	chr6:46006688-46006689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555420193	chr6:46006698-46006699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74946614	chr6:46006743-46006744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377680812	chr6:46006793-46006794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534593270	chr6:46006838-46006839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553015797	chr6:46006854-46006855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578238895	chr6:46006905-46006906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545708131	chr6:46006919-46006920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557400856	chr6:46006939-46006940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79401000	chr6:46006950-46006951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542897884	chr6:46006953-46006954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561035928	chr6:46007089-46007090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115617951	chr6:46007097-46007098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540187620	chr6:46007124-46007125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35899190	chr6:46007128-46007129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78472015	chr6:46007135-46007136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559195405	chr6:46007168-46007169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571841851	chr6:46007195-46007196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534142504	chr6:46007202-46007203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190363499	chr6:46007212-46007213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569880344	chr6:46007222-46007223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530731578	chr6:46007230-46007231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180954600	chr6:46007271-46007272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567330747	chr6:46007293-46007294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146070763	chr6:46007306-46007307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547934387	chr6:46007343-46007344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529616008	chr6:46007354-46007355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45998800-46012600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:46002600-46008000	Weak transcription	Left Ventricle	heart
3	chr6:46002600-46011400	Weak transcription	Right Ventricle	heart
4	chr6:46003400-46007600	Weak transcription	HUVEC	blood vessel
5	chr6:46006000-46006200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:46006000-46006200	Enhancers	Lung	lung
7	chr6:46006000-46006200	Enhancers	Psoas Muscle	Psoas
8	chr6:46006200-46006400	Enhancers	HSMMtube	muscle
9	chr6:46006200-46016400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:46006400-46008000	Weak transcription	Lung	lung
11	chr6:46007200-46011400	Weak transcription	Fetal Intestine Large	intestine
12	chr6:46007600-46007800	Enhancers	Adipose Nuclei	Adipose
13	chr6:46007600-46009400	Enhancers	HUVEC	blood vessel
14	chr6:46007800-46010600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:46008000-46008400	Enhancers	Left Ventricle	heart
16	chr6:46008000-46008400	ZNF genes & repeats	Lung	lung
17	chr6:46008000-46008400	Enhancers	Pancreas	Pancrea
18	chr6:46008400-46010200	Weak transcription	Left Ventricle	heart
19	chr6:46008400-46010400	Weak transcription	Lung	lung
20	chr6:46009400-46009800	Weak transcription	HUVEC	blood vessel
21	chr6:46009800-46013800	Enhancers	HUVEC	blood vessel
22	chr6:46010000-46010600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:46010200-46010400	Enhancers	Placenta	Placenta
24	chr6:46010200-46013000	Enhancers	Left Ventricle	heart

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