Variant report

Variant	nsv521897
Chromosome Location	chr6:101123503-101158950
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
2	chr6:101120240..101121939-chr6:101124928..101126557,2	K562	blood:
3	chr6:101151355..101153775-chr6:101154853..101157255,2	K562	blood:
4	chr6:101151240..101154082-chr6:101158096..101159766,2	K562	blood:
5	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
6	chr6:101151355..101153775-chr6:101154853..101157255,2	K562	blood:
7	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
8	chr6:101155893..101159033-chr6:101162373..101164963,3	K562	blood:
9	chr6:101140450..101143009-chr6:101144554..101147348,2	MCF-7	breast:
10	chr6:101134397..101137375-chr6:101141087..101145140,3	K562	blood:
11	chr6:101139725..101141428-chr6:101141736..101143273,2	K562	blood:
12	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
13	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:
14	chr6:101134397..101136126-chr6:101142181..101145050,2	K562	blood:
15	chr6:101153025..101154840-chr6:101159613..101162231,2	MCF-7	breast:
16	chr6:101140450..101143009-chr6:101144554..101147348,2	MCF-7	breast:
17	chr6:101134397..101136126-chr6:101142181..101145050,2	K562	blood:
18	chr6:101151240..101154082-chr6:101158096..101159766,2	K562	blood:
19	chr6:101139725..101141428-chr6:101141736..101143273,2	K562	blood:
20	chr6:101141922..101144028-chr6:101167838..101169583,2	MCF-7	breast:
21	chr6:101134397..101137375-chr6:101141087..101145140,3	K562	blood:
22	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:

No data

Extended variants
information (count: 1223 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1223 , 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	rs9399654	chr6:101123503-101123504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544970635	chr6:101123513-101123514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9386229	chr6:101123565-101123566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574334473	chr6:101123584-101123585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530605403	chr6:101123607-101123608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542774961	chr6:101123714-101123715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373879411	chr6:101123832-101123833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560675169	chr6:101123858-101123859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540038824	chr6:101123859-101123860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189842322	chr6:101123951-101123952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142204588	chr6:101123974-101123975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182316514	chr6:101123980-101123981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs239201	chr6:101123993-101123994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569498657	chr6:101124036-101124037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536466607	chr6:101124057-101124058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576738472	chr6:101124106-101124107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7747613	chr6:101124109-101124110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566978617	chr6:101124124-101124125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534275551	chr6:101124156-101124157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559036560	chr6:101124169-101124170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369482894	chr6:101124183-101124184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577145674	chr6:101124193-101124194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188904072	chr6:101124240-101124241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556992520	chr6:101124258-101124259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34757270	chr6:101124279-101124280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61019291	chr6:101124308-101124309	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192006564	chr6:101124329-101124330	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76189280	chr6:101124363-101124364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554261528	chr6:101124365-101124366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528212999	chr6:101124426-101124427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115638676	chr6:101124428-101124429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188283838	chr6:101124465-101124466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531998334	chr6:101124536-101124537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76717114	chr6:101124541-101124542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569454031	chr6:101124569-101124570	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192230852	chr6:101124613-101124614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117783436	chr6:101124614-101124615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567064735	chr6:101124615-101124616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539877582	chr6:101124616-101124617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550830415	chr6:101124617-101124618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183950443	chr6:101124618-101124619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187182575	chr6:101124620-101124621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570892989	chr6:101124624-101124625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117205279	chr6:101124626-101124627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74478224	chr6:101124638-101124639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145430077	chr6:101124639-101124640	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575460694	chr6:101124643-101124644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78774532	chr6:101124644-101124645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75606780	chr6:101124655-101124656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139482678	chr6:101124686-101124687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101071600-101127800	Weak transcription	Hela-S3	cervix
2	chr6:101093000-101145800	Weak transcription	Fetal Thymus	thymus
3	chr6:101100400-101131400	Weak transcription	Liver	Liver
4	chr6:101100600-101149800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:101100800-101124400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:101100800-101126600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:101100800-101129200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:101100800-101147600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr6:101100800-101164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:101103800-101126600	Weak transcription	Placenta	Placenta
11	chr6:101103800-101129400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:101103800-101129600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:101103800-101143600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:101104000-101135000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:101110000-101147600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:101110400-101146800	Weak transcription	Primary T cells from cord blood	blood
17	chr6:101110800-101129800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:101111200-101168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:101111600-101130200	Weak transcription	HUVEC	blood vessel
20	chr6:101111600-101168000	Weak transcription	NHDF-Ad	bronchial
21	chr6:101111800-101131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:101111800-101139800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:101111800-101147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:101111800-101147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:101111800-101168200	Weak transcription	Osteobl	bone
26	chr6:101112000-101161200	Weak transcription	HMEC	breast
27	chr6:101118600-101134000	Weak transcription	Psoas Muscle	Psoas
28	chr6:101118600-101168000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:101118800-101147400	Weak transcription	GM12878-XiMat	blood
30	chr6:101119000-101126800	Weak transcription	HSMM	muscle
31	chr6:101119000-101147000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:101119200-101165600	Weak transcription	NH-A	brain
33	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
34	chr6:101119800-101124200	Weak transcription	Dnd41	blood
35	chr6:101119800-101133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:101119800-101146800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:101119800-101146800	Weak transcription	Primary B cells from cord blood	blood
38	chr6:101120000-101146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:101120000-101147000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:101120000-101148000	Weak transcription	HSMMtube	muscle
41	chr6:101121000-101137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:101121800-101124200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:101122000-101132400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:101122000-101148000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:101122400-101124800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:101122400-101129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:101124200-101124600	Strong transcription	Dnd41	blood
48	chr6:101124200-101127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:101124400-101124800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:101124600-101146800	Weak transcription	Dnd41	blood

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