Variant report

Variant	esv2521222
Chromosome Location	chr6:31229591-31232762
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	chr6:31232397..31234509-chr6:31319658..31321454,2	MCF-7	breast:

Extended variants
information (count: 283 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9264405	chr6:31229593-31229594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116995415	chr6:31229606-31229607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9264406	chr6:31229610-31229611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs9368666	chr6:31229644-31229645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114426948	chr6:31229663-31229664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386698930	chr6:31229669-31229670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116817219	chr6:31229670-31229671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11966319	chr6:31229678-31229679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs9394045	chr6:31229691-31229692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11966332	chr6:31229701-31229702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs9366773	chr6:31229705-31229706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9264408	chr6:31229723-31229724	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs113587809	chr6:31229729-31229730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375819866	chr6:31229730-31229731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536018660	chr6:31229731-31229732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556037128	chr6:31229732-31229733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564162914	chr6:31229734-31229735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9264409	chr6:31229738-31229739	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs546742653	chr6:31229740-31229741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9357119	chr6:31229747-31229748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs372441068	chr6:31229763-31229764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9264410	chr6:31229775-31229776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs9380229	chr6:31229785-31229786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs115601647	chr6:31229795-31229796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114434032	chr6:31229796-31229797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566914750	chr6:31229797-31229798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9264411	chr6:31229845-31229846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs555900772	chr6:31229846-31229847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17192099	chr6:31229856-31229857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs17192106	chr6:31229864-31229865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs80224296	chr6:31229879-31229880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75571369	chr6:31229882-31229883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9264412	chr6:31229921-31229922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs150881480	chr6:31229923-31229924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9264413	chr6:31229930-31229931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs9264414	chr6:31229942-31229943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs550892886	chr6:31229948-31229949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376474307	chr6:31229960-31229961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2245731	chr6:31229966-31229967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs139377553	chr6:31229981-31229982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17192134	chr6:31229993-31229994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs566775426	chr6:31230002-31230003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538366421	chr6:31230004-31230005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534279015	chr6:31230025-31230026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9264416	chr6:31230042-31230043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs17198490	chr6:31230059-31230060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs386698932	chr6:31230077-31230078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9264417	chr6:31230078-31230079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs538983723	chr6:31230105-31230106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2894196	chr6:31230111-31230112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31228200-31235800	Weak transcription	Fetal Thymus	thymus
2	chr6:31228400-31233800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:31228400-31235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:31228600-31234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:31229800-31230200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:31230200-31235600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:31230600-31230800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
8	chr6:31230600-31231000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr6:31231000-31234600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:31231800-31235600	Weak transcription	Left Ventricle	heart
11	chr6:31232400-31235400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:31232600-31235600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:31232600-31236800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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