Variant report

Variant	nsv884739
Chromosome Location	chr6:32347490-32355605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:32354511-32354580	GM13976	blood:	n/a	n/a
2	JUN	chr6:32347922-32347971	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr6:32351969-32352346	K562	blood:	n/a	n/a
4	NR2F2	chr6:32351968-32352458	K562	blood:	n/a	n/a
5	PAX5	chr6:32353612-32353748	GM12878	blood:	n/a	n/a
6	PAX5	chr6:32353549-32353861	GM12878	blood:	n/a	n/a
7	PAX5	chr6:32353589-32353827	GM12878	blood:	n/a	n/a
8	PAX5	chr6:32353611-32353830	GM12878	blood:	n/a	n/a
9	SPI1	chr6:32350513-32350927	HL-60	blood:	n/a	n/a
10	SPI1	chr6:32355438-32355652	GM12891	blood:	n/a	chr6:32355546-32355553

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:32353057..32355376-chr6:32358094..32359771,3	MCF-7	breast:

Variant related genes	Relation type
HCG23	TF binding region
ENSG00000228962	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:286 , 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	rs555185936	chr6:32347508-32347509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190629230	chr6:32347599-32347600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529041700	chr6:32347629-32347630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56673349	chr6:32347637-32347638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545420797	chr6:32347661-32347662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9268446	chr6:32347749-32347750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148233867	chr6:32347792-32347793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9268447	chr6:32347831-32347832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs2395155	chr6:32347897-32347898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs200028560	chr6:32347971-32347972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61506991	chr6:32347984-32347985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140404378	chr6:32348038-32348039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2395156	chr6:32348098-32348099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs539116595	chr6:32348140-32348141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2395157	chr6:32348145-32348146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566124398	chr6:32348177-32348178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533882509	chr6:32348219-32348220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150367062	chr6:32348245-32348246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3117104	chr6:32348309-32348310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138168608	chr6:32348339-32348340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556035388	chr6:32348349-32348350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142760905	chr6:32348379-32348380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545507200	chr6:32348385-32348386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145077932	chr6:32348396-32348397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560931186	chr6:32348419-32348420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143895893	chr6:32348421-32348422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144875745	chr6:32348429-32348430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9281769	chr6:32348436-32348437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9268448	chr6:32348463-32348464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs9268449	chr6:32348467-32348468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs180868403	chr6:32348510-32348511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531883198	chr6:32348527-32348528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138872570	chr6:32348552-32348553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77650936	chr6:32348612-32348613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28752484	chr6:32348669-32348670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs9268450	chr6:32348690-32348691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs566161289	chr6:32348817-32348818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144798785	chr6:32348819-32348820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548670396	chr6:32348986-32348987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567552761	chr6:32348987-32348988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185505515	chr6:32349015-32349016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556362003	chr6:32349070-32349071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9268451	chr6:32349086-32349087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs538288838	chr6:32349103-32349104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556092398	chr6:32349106-32349107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117768448	chr6:32349113-32349114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148551663	chr6:32349141-32349142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190162047	chr6:32349195-32349196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182800590	chr6:32349226-32349227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76318143	chr6:32349355-32349356	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32342800-32355200	Weak transcription	Stomach Mucosa	stomach
2	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
3	chr6:32345800-32355000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:32350400-32350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:32351400-32365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:32354800-32356000	Enhancers	GM12878-XiMat	blood
7	chr6:32354800-32356200	Enhancers	Fetal Intestine Small	intestine
8	chr6:32355000-32355600	Enhancers	Small Intestine	intestine
9	chr6:32355000-32356000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:32355000-32356400	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:32355200-32356200	Enhancers	Stomach Mucosa	stomach
12	chr6:32355400-32355600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:32355400-32356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:32355400-32356200	Enhancers	Fetal Intestine Large	intestine
15	chr6:32355600-32358000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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