Variant report

Variant	nsv884741
Chromosome Location	chr6:32367017-32370816
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	chr6:32369487..32371543-chr6:32654022..32656870,2	K562	blood:
2	chr6:32363881..32366700-chr6:32368239..32370976,2	K562	blood:

Extended variants
information (count: 262 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:262 , 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	rs3117116	chr6:32367017-32367018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117391429	chr6:32367046-32367047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188806849	chr6:32367048-32367049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117646657	chr6:32367051-32367052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368143774	chr6:32367058-32367059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139678926	chr6:32367063-32367064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117010275	chr6:32367077-32367078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117418067	chr6:32367102-32367103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117802367	chr6:32367239-32367240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2294884	chr6:32367259-32367260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs535274954	chr6:32367291-32367292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144540865	chr6:32367297-32367298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536877081	chr6:32367339-32367340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117543429	chr6:32367353-32367354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576968213	chr6:32367377-32367378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146634932	chr6:32367388-32367389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118178918	chr6:32367401-32367402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117131280	chr6:32367412-32367413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2294883	chr6:32367451-32367452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116848553	chr6:32367477-32367478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2294882	chr6:32367515-32367516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs546466641	chr6:32367538-32367539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117637259	chr6:32367551-32367552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148835240	chr6:32367572-32367573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116885919	chr6:32367575-32367576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs118013350	chr6:32367594-32367595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117677057	chr6:32367598-32367599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2294881	chr6:32367604-32367605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs553023234	chr6:32367626-32367627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117182873	chr6:32367631-32367632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564613201	chr6:32367649-32367650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150919195	chr6:32367650-32367651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546545481	chr6:32367656-32367657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150110105	chr6:32367659-32367660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138855114	chr6:32367665-32367666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117579701	chr6:32367673-32367674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117051525	chr6:32367682-32367683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117345304	chr6:32367693-32367694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116522341	chr6:32367697-32367698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2294880	chr6:32367722-32367723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs573496788	chr6:32367729-32367730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116999528	chr6:32367730-32367731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs118048736	chr6:32367731-32367732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117774706	chr6:32367732-32367733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193301616	chr6:32367747-32367748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372081750	chr6:32367750-32367751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371259935	chr6:32367753-32367754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184243021	chr6:32367757-32367758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9268482	chr6:32367777-32367778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573802303	chr6:32367784-32367785	Weak transcription Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32361000-32370600	Weak transcription	Spleen	Spleen
2	chr6:32362800-32367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:32362800-32367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:32362800-32369200	Weak transcription	Esophagus	oesophagus
5	chr6:32365600-32367600	Weak transcription	NHEK	skin
6	chr6:32366600-32369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:32367600-32368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:32367800-32368000	Enhancers	NHEK	skin
9	chr6:32367800-32368200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:32367800-32368200	Enhancers	HMEC	breast
11	chr6:32368000-32368400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:32368400-32385600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:32369200-32369400	Enhancers	Esophagus	oesophagus
14	chr6:32369200-32369400	Enhancers	Fetal Thymus	thymus
15	chr6:32369400-32369600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:32369400-32370600	Weak transcription	Esophagus	oesophagus
17	chr6:32370600-32370800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:32370600-32370800	Enhancers	Esophagus	oesophagus
19	chr6:32370600-32370800	Active TSS	Spleen	Spleen
20	chr6:32370800-32371000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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