Variant report

Variant	nsv520329
Chromosome Location	chr6:106683995-106703618
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:106689567..106692491-chr6:106708271..106710580,3	K562	blood:
2	chr6:106702583..106704653-chr6:106707003..106708997,2	K562	blood:
3	chr6:106702821..106705726-chr6:106719179..106721244,2	K562	blood:
4	chr6:106687715..106690914-chr6:106691161..106694111,3	K562	blood:
5	chr6:106687715..106690914-chr6:106691161..106694111,3	K562	blood:
6	chr6:106702743..106704638-chr6:106718970..106721930,2	MCF-7	breast:
7	chr6:106695363..106697607-chr6:106707956..106710160,2	K562	blood:

No data

Extended variants
information (count: 678 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2787525	chr6:106683995-106683996	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545652100	chr6:106683998-106683999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557083938	chr6:106684016-106684017	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142358338	chr6:106684073-106684074	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189607296	chr6:106684161-106684162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561839220	chr6:106684195-106684196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145922719	chr6:106684196-106684197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376531592	chr6:106684198-106684199	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575569780	chr6:106684215-106684216	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541318127	chr6:106684252-106684253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564446422	chr6:106684255-106684256	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373358721	chr6:106684266-106684267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549298295	chr6:106684426-106684427	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532787856	chr6:106684432-106684433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12529488	chr6:106684453-106684454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2743559	chr6:106684470-106684471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528946843	chr6:106684504-106684505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181612439	chr6:106684541-106684542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565911386	chr6:106684650-106684651	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534920173	chr6:106684698-106684699	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558017430	chr6:106684700-106684701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571866133	chr6:106684720-106684721	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537355867	chr6:106684832-106684833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557290984	chr6:106684892-106684893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139460483	chr6:106684896-106684897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552018344	chr6:106684949-106684950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538239481	chr6:106684958-106684959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553538904	chr6:106685044-106685045	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571317606	chr6:106685107-106685108	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537044359	chr6:106685111-106685112	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541274250	chr6:106685149-106685150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564128791	chr6:106685160-106685161	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577826726	chr6:106685183-106685184	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3827644	chr6:106685195-106685196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
35	rs3827645	chr6:106685211-106685212	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567406513	chr6:106685271-106685272	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79364863	chr6:106685326-106685327	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79259122	chr6:106685327-106685328	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75105530	chr6:106685328-106685329	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528883734	chr6:106685351-106685352	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548650755	chr6:106685354-106685355	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559059920	chr6:106685383-106685384	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536473985	chr6:106685421-106685422	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34977023	chr6:106685486-106685487	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528179603	chr6:106685511-106685512	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552911165	chr6:106685588-106685589	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144379560	chr6:106685591-106685592	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571765164	chr6:106685602-106685603	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78080013	chr6:106685634-106685635	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186955071	chr6:106685659-106685660	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:106647400-106695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:106649200-106695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:106649200-106695400	Weak transcription	HMEC	breast
5	chr6:106650000-106695200	Weak transcription	NHEK	skin
6	chr6:106658200-106689000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:106664800-106693800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:106665400-106689600	Weak transcription	Aorta	Aorta
9	chr6:106665400-106695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:106671200-106690000	Weak transcription	GM12878-XiMat	blood
11	chr6:106671600-106693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:106673800-106691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:106674000-106685200	Weak transcription	Liver	Liver
15	chr6:106674200-106685200	Weak transcription	HepG2	liver
16	chr6:106674800-106689600	Weak transcription	HSMM	muscle
17	chr6:106675000-106695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:106675400-106695600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:106675400-106698800	Weak transcription	Pancreas	Pancrea
20	chr6:106675400-106705000	Weak transcription	K562	blood
21	chr6:106675600-106696800	Weak transcription	Fetal Lung	lung
22	chr6:106676000-106695400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:106676400-106689200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:106676400-106689400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
26	chr6:106676800-106695400	Weak transcription	Thymus	Thymus
27	chr6:106676800-106698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:106677000-106695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:106677000-106699600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:106677400-106689400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:106677600-106713000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:106680800-106695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:106682000-106684000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr6:106682000-106684800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:106682200-106695200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:106682200-106695200	Weak transcription	Hela-S3	cervix
37	chr6:106682600-106684000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr6:106682600-106684000	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr6:106682600-106685400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:106682800-106684000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:106682800-106684600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:106683000-106684000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr6:106683000-106684000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:106683000-106684400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:106683000-106685400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr6:106683000-106694400	Weak transcription	Placenta	Placenta
47	chr6:106683000-106694600	Weak transcription	Fetal Thymus	thymus
48	chr6:106683000-106695200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:106683200-106684000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:106683200-106684000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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