Variant report

Variant	nsv886445
Chromosome Location	chr6:101004751-101240763
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:114)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
2	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
3	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
4	chr6:100564237..100565179-chr6:101105285..101106695,9	MCF-7	breast:
5	chr6:101115915..101118042-chr6:101119236..101121242,2	MCF-7	breast:
6	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:
7	chr6:100564262..100565210-chr6:101105116..101106264,3	K562	blood:
8	chr6:100564279..100564893-chr6:101111911..101112519,2	MCF-7	breast:
9	chr6:101153025..101154840-chr6:101159613..101162231,2	MCF-7	breast:
10	chr6:101006431..101008504-chr6:101017290..101019362,2	K562	blood:
11	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
12	chr6:101239952..101241770-chr6:101249281..101252213,2	K562	blood:
13	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
14	chr6:101177164..101179781-chr6:101180643..101183395,2	K562	blood:
15	chr6:101006431..101008504-chr6:101017290..101019362,2	K562	blood:
16	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
17	chr6:100774621..100775576-chr6:101105387..101106278,3	MCF-7	breast:
18	chr6:101017900..101019505-chr6:101022464..101024601,2	K562	blood:
19	chr6:101020351..101022880-chr6:101024061..101026252,2	K562	blood:
20	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
21	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
22	chr6:100315644..100316614-chr6:101111864..101112500,2	K562	blood:
23	chr6:100927185..100927844-chr6:101105325..101105870,2	MCF-7	breast:
24	chr6:101144625..101146533-chr6:101150207..101152551,2	K562	blood:
25	chr6:101090896..101093112-chr6:101096818..101099684,2	K562	blood:
26	chr6:101137250..101140625-chr6:101142166..101144758,3	K562	blood:
27	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
28	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
29	chr6:101120240..101121939-chr6:101124928..101126557,2	K562	blood:
30	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
31	chr6:101004586..101006305-chr6:101009165..101010725,2	MCF-7	breast:
32	chr6:100554526..100556212-chr6:101104828..101106229,8	MCF-7	breast:
33	chr6:101151240..101154082-chr6:101158096..101159766,2	K562	blood:
34	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
35	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
36	chr6:101134397..101136126-chr6:101142181..101145050,2	K562	blood:
37	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:
38	chr6:101140450..101143009-chr6:101144554..101147348,2	MCF-7	breast:
39	chr6:101167975..101170318-chr6:101170858..101173669,2	MCF-7	breast:
40	chr6:101153025..101154840-chr6:101159613..101162231,2	MCF-7	breast:
41	chr6:101115915..101118042-chr6:101119236..101121242,2	MCF-7	breast:
42	chr6:101120240..101121939-chr6:101124928..101126557,2	K562	blood:
43	chr6:101103606..101105187-chr6:101110691..101113240,2	K562	blood:
44	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
45	chr6:101209793..101211666-chr6:101212559..101214654,2	MCF-7	breast:
46	chr6:101223376..101224309-chr6:101674457..101675224,3	MCF-7	breast:
47	chr6:101184266..101186701-chr6:101321079..101322607,2	K562	blood:
48	chr6:101081950..101083969-chr6:101086738..101088997,2	MCF-7	breast:
49	chr6:101134397..101137375-chr6:101141087..101145140,3	K562	blood:
50	chr6:101209490..101212282-chr6:101220701..101222580,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIK2-6	chr6:101080704-101080933	uc_202_+
2	lnc-SIM1-3	chr6:101080704-101080933	uc_202_-

No data

Variant related genes	Relation type
ENSG00000124225	chromatin interactions

Extended variants
information (count: 8546 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:8546 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2398133	chr6:101004751-101004752	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571681123	chr6:101004755-101004756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78561957	chr6:101004790-101004791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557354017	chr6:101004820-101004821	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569260724	chr6:101004844-101004845	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144174570	chr6:101004852-101004853	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34120577	chr6:101004860-101004861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376375349	chr6:101004866-101004867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552539219	chr6:101004868-101004869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77663267	chr6:101004910-101004911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541176622	chr6:101004957-101004958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552806690	chr6:101004979-101004980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545366371	chr6:101004996-101004997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146519856	chr6:101005011-101005012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140763901	chr6:101005026-101005027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182132275	chr6:101005046-101005047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116078901	chr6:101005070-101005071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187940888	chr6:101005071-101005072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs193048965	chr6:101005110-101005111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149672111	chr6:101005117-101005118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145500378	chr6:101005121-101005122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183977983	chr6:101005123-101005124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532675961	chr6:101005151-101005152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs116945534	chr6:101005163-101005164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148858927	chr6:101005185-101005186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536605687	chr6:101005207-101005208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143335604	chr6:101005213-101005214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567515798	chr6:101005289-101005290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534537201	chr6:101005308-101005309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373539572	chr6:101005312-101005313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370671572	chr6:101005332-101005333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72939355	chr6:101005363-101005364	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs148362237	chr6:101005396-101005397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115611438	chr6:101005402-101005403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574896782	chr6:101005449-101005450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542181803	chr6:101005456-101005457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76953760	chr6:101005473-101005474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9485165	chr6:101005474-101005475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368707134	chr6:101005478-101005479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565516882	chr6:101005506-101005507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111517173	chr6:101005544-101005545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532597141	chr6:101005585-101005586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551101074	chr6:101005642-101005643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562932874	chr6:101005707-101005708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373693440	chr6:101005728-101005729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147104314	chr6:101005735-101005736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558199667	chr6:101005771-101005772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548572601	chr6:101005777-101005778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74597748	chr6:101005778-101005779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534950166	chr6:101005779-101005780	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:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100960800-101035000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:100964200-101020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:100965200-101011400	Weak transcription	Pancreas	Pancrea
4	chr6:100965400-101005000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:100965600-101033600	Weak transcription	Ovary	ovary
6	chr6:100978200-101008200	Weak transcription	NHDF-Ad	bronchial
7	chr6:100978600-101019400	Weak transcription	HMEC	breast
8	chr6:100979800-101018200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:100986400-101005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:100988000-101019000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:100988200-101018800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:100988200-101035000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:100988200-101035000	Weak transcription	GM12878-XiMat	blood
14	chr6:100988400-101005000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:100988800-101008400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:100988800-101034200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:100989000-101018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:100990600-101018200	Weak transcription	Left Ventricle	heart
19	chr6:100996800-101016000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:100997400-101008400	Weak transcription	NH-A	brain
21	chr6:100997600-101017000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:100997800-101015400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:100997800-101018000	Weak transcription	Dnd41	blood
24	chr6:100998000-101008200	Weak transcription	HSMM	muscle
25	chr6:100998000-101008600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:100998200-101015800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:101001000-101034000	Weak transcription	Fetal Intestine Large	intestine
28	chr6:101001400-101020000	Weak transcription	Fetal Brain Male	brain
29	chr6:101001600-101008200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:101001600-101010400	Weak transcription	Fetal Intestine Small	intestine
31	chr6:101001600-101034000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:101002000-101033600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:101002400-101008400	Weak transcription	A549	lung
34	chr6:101002400-101027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:101002600-101013400	Weak transcription	Liver	Liver
36	chr6:101003600-101005000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:101003800-101005400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:101005000-101005400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr6:101005000-101008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:101005000-101023400	Weak transcription	Placenta	Placenta
41	chr6:101005200-101033600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:101005400-101015800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:101005400-101018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:101006200-101035400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:101007400-101033600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:101007800-101009000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr6:101008200-101008800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:101008200-101009000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:101008200-101009000	Enhancers	HSMM	muscle
50	chr6:101008200-101009000	Enhancers	NHDF-Ad	bronchial

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