Variant report

Variant	nsv886591
Chromosome Location	chr6:121260089-121398535
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:
2	chr6:121376783..121377622-chr6:121626950..121627772,3	MCF-7	breast:
3	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
4	chr6:121376109..121377626-chr6:121543516..121544370,7	MCF-7	breast:
5	chr6:121376484..121377440-chr6:121626832..121627562,3	MCF-7	breast:
6	chr6:121376435..121377426-chr6:121544734..121545558,2	MCF-7	breast:
7	chr17:4138428..4139347-chr6:121298553..121299157,2	MCF-7	breast:
8	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
9	chr6:121376879..121377380-chr6:121543841..121544431,2	K562	blood:
10	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:
11	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
12	chr6:121295924..121297821-chr6:121298707..121301135,2	K562	blood:
13	chr6:121376496..121377369-chr6:121557870..121558396,2	MCF-7	breast:
14	chr6:121359776..121362042-chr7:45978635..45981632,2	MCF-7	breast:
15	chr6:121376454..121377382-chr6:121626851..121627812,5	K562	blood:
16	chr6:121295924..121297821-chr6:121298707..121301135,2	K562	blood:
17	chr6:121377193..121378906-chr6:121509031..121511609,2	MCF-7	breast:
18	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:
19	chr6:121376496..121377167-chr6:121721914..121722620,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146350	chromatin interactions

Extended variants
information (count: 2210 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:2210 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12193473	chr6:121260089-121260090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530491301	chr6:121260100-121260101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550286473	chr6:121260135-121260136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570383037	chr6:121260137-121260138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186211747	chr6:121260177-121260178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546618832	chr6:121260184-121260185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376339627	chr6:121260190-121260191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567029238	chr6:121260192-121260193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146596281	chr6:121260198-121260199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs2063878	chr6:121260215-121260216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536249157	chr6:121260298-121260299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538293665	chr6:121260358-121260359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556681838	chr6:121260397-121260398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558292864	chr6:121260406-121260407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76835427	chr6:121260412-121260413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540265494	chr6:121260436-121260437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9942474	chr6:121260439-121260440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373189258	chr6:121260489-121260490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573040755	chr6:121260499-121260500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541738570	chr6:121260540-121260541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561520268	chr6:121260557-121260558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530624767	chr6:121260644-121260645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543865986	chr6:121260652-121260653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575199983	chr6:121260688-121260689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370581532	chr6:121260713-121260714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564019631	chr6:121260724-121260725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533073957	chr6:121260732-121260733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546260330	chr6:121260790-121260791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560107959	chr6:121260801-121260802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182693965	chr6:121260807-121260808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141229941	chr6:121260822-121260823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60770638	chr6:121260831-121260832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12528433	chr6:121260836-121260837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113373452	chr6:121260883-121260884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538432280	chr6:121260925-121260926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533350754	chr6:121260990-121260991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551997816	chr6:121260993-121260994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6922074	chr6:121261016-121261017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141359827	chr6:121261038-121261039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553846978	chr6:121261093-121261094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142431044	chr6:121261128-121261129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535320523	chr6:121261161-121261162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555255398	chr6:121261176-121261177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562300365	chr6:121261193-121261194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7738482	chr6:121261219-121261220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543978858	chr6:121261303-121261304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564336813	chr6:121261319-121261320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151328119	chr6:121261378-121261379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373599112	chr6:121261394-121261395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540342688	chr6:121261459-121261460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
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
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
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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121253200-121260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:121254600-121261600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:121259000-121260200	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:121259000-121260800	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:121259400-121260600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:121259600-121260600	Enhancers	Primary B cells from cord blood	blood
7	chr6:121259600-121260800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:121259800-121260400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:121259800-121260600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:121260000-121260800	Enhancers	GM12878-XiMat	blood
11	chr6:121260200-121260600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:121260200-121260800	Enhancers	Stomach Mucosa	stomach
13	chr6:121260600-121261400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:121260600-121261600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:121260800-121261200	Weak transcription	Stomach Mucosa	stomach
16	chr6:121261200-121262000	Enhancers	Stomach Mucosa	stomach
17	chr6:121261600-121262000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:121262000-121265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:121265000-121265400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:121267000-121267600	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:121268000-121269200	Enhancers	Liver	Liver
22	chr6:121271400-121272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:121272400-121272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:121272600-121274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:121272600-121274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:121274000-121275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:121274400-121274600	Enhancers	Gastric	stomach
28	chr6:121282200-121282600	Enhancers	Stomach Mucosa	stomach
29	chr6:121286800-121287800	Enhancers	Stomach Mucosa	stomach
30	chr6:121303000-121303800	Enhancers	Liver	Liver
31	chr6:121308800-121311200	Weak transcription	Pancreas	Pancrea
32	chr6:121313600-121314400	Enhancers	Liver	Liver
33	chr6:121314400-121314800	Flanking Active TSS	Liver	Liver
34	chr6:121314400-121316000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:121314800-121316200	Enhancers	Liver	Liver
36	chr6:121316200-121319600	Weak transcription	Liver	Liver
37	chr6:121319600-121320000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:121319600-121320200	Active TSS	Liver	Liver
39	chr6:121319800-121320200	Active TSS	Dnd41	blood
40	chr6:121319800-121320200	Active TSS	Hela-S3	cervix
41	chr6:121319800-121320200	Active TSS	Osteobl	bone
42	chr6:121319800-121320600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:121320000-121320200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:121320200-121320400	Enhancers	Hela-S3	cervix
45	chr6:121320200-121320600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:121320600-121321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:121320600-121321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:121320600-121322400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:121321000-121322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:121321000-121322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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