Variant report

Variant	nsv884742
Chromosome Location	chr6:32388709-32400344
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	chr6:32399520..32400227-chr6:32764523..32765024,2	K562	blood:
2	chr6:32379201..32381126-chr6:32389212..32391277,2	K562	blood:
3	chr6:32381399..32382954-chr6:32391924..32394596,2	K562	blood:
4	chr6:32399827..32400596-chr6:32668021..32668936,2	MCF-7	breast:
5	chr6:32392086..32394927-chr6:32401515..32403109,2	MCF-7	breast:
6	chr6:32382946..32383924-chr6:32399513..32400411,3	MCF-7	breast:
7	chr6:32399474..32400480-chr6:32667988..32668525,4	K562	blood:
8	chr6:32399459..32400332-chr6:32443390..32444188,2	MCF-7	breast:

No data

Extended variants
information (count: 474 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557996026	chr6:32390035-32390036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111664049	chr6:32390130-32390131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146771984	chr6:32390142-32390143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112819096	chr6:32390175-32390176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2395168	chr6:32390196-32390197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs114926982	chr6:32390197-32390198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115487398	chr6:32390206-32390207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577920359	chr6:32390226-32390227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183677529	chr6:32390245-32390246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560752773	chr6:32390249-32390250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527853014	chr6:32390265-32390266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550609554	chr6:32390329-32390330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2894255	chr6:32390332-32390333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186896592	chr6:32390356-32390357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528934989	chr6:32390375-32390376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550588868	chr6:32390376-32390377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114453949	chr6:32390377-32390378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116920857	chr6:32390381-32390382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9366798	chr6:32390399-32390400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527288727	chr6:32390400-32390401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560818205	chr6:32390412-32390413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192232151	chr6:32390414-32390415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538354620	chr6:32390435-32390436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143810596	chr6:32390436-32390437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148205919	chr6:32390464-32390465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370892995	chr6:32390479-32390480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141144670	chr6:32390484-32390485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183937327	chr6:32390497-32390498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561499946	chr6:32390500-32390501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145199103	chr6:32390559-32390560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182468228	chr6:32390570-32390571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3135359	chr6:32390578-32390579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs187751879	chr6:32390608-32390609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112162078	chr6:32390621-32390622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114913290	chr6:32390676-32390677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34330585	chr6:32390703-32390704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs561865920	chr6:32390744-32390745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3135358	chr6:32390748-32390749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs146003472	chr6:32390751-32390752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566446356	chr6:32390810-32390811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34768004	chr6:32390820-32390821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6923872	chr6:32390857-32390858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs191284906	chr6:32390866-32390867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28811272	chr6:32390867-32390868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566645495	chr6:32390875-32390876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113959836	chr6:32390903-32390904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9268568	chr6:32390904-32390905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567082038	chr6:32390921-32390922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144608450	chr6:32390924-32390925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148519138	chr6:32390934-32390935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	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
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32390000-32410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:32391400-32392800	Enhancers	HMEC	breast
3	chr6:32391600-32392800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:32391600-32393000	Enhancers	NHEK	skin
5	chr6:32391800-32392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:32392000-32392200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:32394200-32395800	Enhancers	Liver	Liver
8	chr6:32395000-32395600	Enhancers	HepG2	liver
9	chr6:32395200-32395600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:32400000-32400600	Enhancers	GM12878-XiMat	blood

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