Variant report

Variant	nsv885866
Chromosome Location	chr6:45825244-45863826
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45852163..45854064-chr6:45855207..45857306,2	K562	blood:
2	chr6:45847378..45849945-chr6:45850338..45851947,2	MCF-7	breast:
3	chr6:45820945..45823438-chr6:45824111..45826379,2	K562	blood:
4	chr6:45847378..45849945-chr6:45850338..45851947,2	MCF-7	breast:
5	chr6:45826333..45828621-chr6:45834716..45836937,2	K562	blood:
6	chr6:45841537..45843266-chr6:45846464..45848348,2	K562	blood:
7	chr6:45826333..45828621-chr6:45834716..45836937,2	K562	blood:
8	chr6:45852163..45854064-chr6:45855207..45857306,2	K562	blood:
9	chr6:45841537..45843266-chr6:45846464..45848348,2	K562	blood:

No data

Extended variants
information (count: 1235 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1235 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10948261	chr6:45825244-45825245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577887771	chr6:45825248-45825249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538662862	chr6:45825249-45825250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556921376	chr6:45825305-45825306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575361760	chr6:45825329-45825330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145226020	chr6:45825341-45825342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80354330	chr6:45825353-45825354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184734905	chr6:45825415-45825416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540823322	chr6:45825420-45825421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559622726	chr6:45825459-45825460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137865166	chr6:45825474-45825475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115896340	chr6:45825494-45825495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114728002	chr6:45825495-45825496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386700807	chr6:45825563-45825564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114623352	chr6:45825568-45825569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114590763	chr6:45825573-45825574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189210676	chr6:45825591-45825592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374353218	chr6:45825672-45825673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145138690	chr6:45825693-45825694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546843003	chr6:45825703-45825704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113202111	chr6:45825750-45825751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118003300	chr6:45825829-45825830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536935760	chr6:45825844-45825845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75156218	chr6:45825845-45825846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574313660	chr6:45825921-45825922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536213089	chr6:45825926-45825927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555050051	chr6:45825927-45825928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573229589	chr6:45825944-45825945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541238764	chr6:45825946-45825947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181056707	chr6:45826006-45826007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77435166	chr6:45826016-45826017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550422236	chr6:45826029-45826030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148354107	chr6:45826035-45826036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185947543	chr6:45826048-45826049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540965655	chr6:45826052-45826053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562138597	chr6:45826057-45826058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563532170	chr6:45826081-45826082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78944515	chr6:45826118-45826119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548672371	chr6:45826139-45826140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189963512	chr6:45826156-45826157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373019042	chr6:45826203-45826204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181148127	chr6:45826245-45826246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111811165	chr6:45826257-45826258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547199360	chr6:45826276-45826277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571503977	chr6:45826279-45826280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146697083	chr6:45826304-45826305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532708213	chr6:45826306-45826307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9472596	chr6:45826308-45826309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190399052	chr6:45826310-45826311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564141499	chr6:45826312-45826313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45822800-45826400	Weak transcription	Fetal Stomach	stomach
2	chr6:45823600-45826400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:45824800-45825600	Enhancers	Right Atrium	heart
4	chr6:45825400-45825800	Enhancers	Fetal Heart	heart
5	chr6:45825400-45826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:45826200-45826400	Enhancers	Esophagus	oesophagus
7	chr6:45826400-45826600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:45826400-45826600	Enhancers	Brain Germinal Matrix	brain
9	chr6:45826400-45826800	Enhancers	Fetal Stomach	stomach
10	chr6:45826600-45826800	Weak transcription	Brain Germinal Matrix	brain
11	chr6:45826800-45827600	Weak transcription	Fetal Stomach	stomach
12	chr6:45827600-45828200	Enhancers	Fetal Stomach	stomach
13	chr6:45827800-45828000	Enhancers	Brain Germinal Matrix	brain
14	chr6:45830000-45830800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:45832400-45833000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:45832400-45833400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:45832400-45833600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:45832600-45832800	Enhancers	Hela-S3	cervix
19	chr6:45832800-45834400	Weak transcription	Hela-S3	cervix
20	chr6:45833400-45833800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:45834400-45834800	Flanking Active TSS	Hela-S3	cervix
22	chr6:45834400-45835000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:45834800-45835200	Enhancers	Hela-S3	cervix
24	chr6:45836000-45836200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:45836000-45836400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:45837200-45838200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:45837400-45837600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:45837600-45837800	Enhancers	Brain Germinal Matrix	brain
29	chr6:45837600-45838000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:45837800-45838800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:45838000-45838400	Flanking Active TSS	Osteobl	bone
32	chr6:45838000-45839200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:45838200-45838400	Enhancers	Fetal Muscle Leg	muscle
34	chr6:45838200-45839200	Enhancers	Fetal Lung	lung
35	chr6:45838400-45838600	Enhancers	Brain Germinal Matrix	brain
36	chr6:45838400-45839000	Enhancers	Fetal Stomach	stomach
37	chr6:45838600-45839000	Enhancers	Fetal Heart	heart
38	chr6:45839000-45847200	Weak transcription	Fetal Stomach	stomach
39	chr6:45839200-45840800	Weak transcription	Fetal Lung	lung
40	chr6:45840600-45841600	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:45840800-45841200	Enhancers	Fetal Lung	lung
42	chr6:45841400-45842400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:45842400-45847400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:45846000-45846200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:45846000-45846200	Enhancers	Left Ventricle	heart
46	chr6:45846200-45847200	Weak transcription	Left Ventricle	heart
47	chr6:45846200-45847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:45847000-45847600	Enhancers	Duodenum Mucosa	Duodenum
49	chr6:45847000-45849800	Enhancers	Fetal Intestine Small	intestine
50	chr6:45847000-45850600	Enhancers	Fetal Lung	lung

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