Variant report

Variant	nsv823514
Chromosome Location	chr6:32371339-32372515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:32340623..32343267-chr6:32371760..32373920,2	K562	blood:
2	chr6:32341767..32343740-chr6:32372075..32373920,2	K562	blood:
3	chr6:32369487..32371543-chr6:32654022..32656870,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386699318	chr6:32371372-32371373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114366563	chr6:32371390-32371391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58681672	chr6:32371394-32371395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371429958	chr6:32371406-32371407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386699319	chr6:32371407-32371408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116516376	chr6:32371414-32371415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115027829	chr6:32371423-32371424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540823847	chr6:32371424-32371425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79445387	chr6:32371444-32371445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180907535	chr6:32371445-32371446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73400843	chr6:32371500-32371501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564197836	chr6:32371524-32371525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113358109	chr6:32371528-32371529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112894468	chr6:32371533-32371534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386699320	chr6:32371538-32371539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116826930	chr6:32371539-32371540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551054049	chr6:32371543-32371544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73400844	chr6:32371572-32371573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76542357	chr6:32371599-32371600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78002668	chr6:32371604-32371605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3793126	chr6:32371619-32371620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs139579575	chr6:32371620-32371621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549584770	chr6:32371631-32371632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574450143	chr6:32371632-32371633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73400847	chr6:32371640-32371641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78982396	chr6:32371652-32371653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74389891	chr6:32371667-32371668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73400850	chr6:32371697-32371698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556591609	chr6:32371708-32371709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112970137	chr6:32371717-32371718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145097304	chr6:32371724-32371725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145026354	chr6:32371727-32371728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115020225	chr6:32371731-32371732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115293482	chr6:32371739-32371740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74506038	chr6:32371743-32371744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73400852	chr6:32371800-32371801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73400855	chr6:32371818-32371819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551113533	chr6:32371828-32371829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114394166	chr6:32371840-32371841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112711428	chr6:32371852-32371853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386699321	chr6:32371865-32371866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115117407	chr6:32371867-32371868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377381582	chr6:32371887-32371888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370967126	chr6:32371888-32371889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374932629	chr6:32371896-32371897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116391620	chr6:32371898-32371899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3793127	chr6:32371915-32371916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs73400859	chr6:32371954-32371955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185468385	chr6:32371968-32371969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73400861	chr6:32371987-32371988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32368400-32385600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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