Variant report

Variant	nsv1016353
Chromosome Location	chr6:101172705-101304041
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:101223675..101224334-chr6:101674492..101675446,2	MCF-7	breast:
2	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
3	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:
4	chr6:101191819..101193985-chr6:101196760..101198268,2	K562	blood:
5	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:
6	chr6:101239952..101241770-chr6:101249281..101252213,2	K562	blood:
7	chr6:101302750..101305645-chr6:101307403..101308925,2	K562	blood:
8	chr6:101271641..101274156-chr6:101276043..101277591,3	K562	blood:
9	chr6:101243854..101246024-chr6:101258576..101260117,2	K562	blood:
10	chr6:101209490..101212282-chr6:101220701..101222580,2	MCF-7	breast:
11	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
12	chr6:101209793..101211666-chr6:101212559..101214654,2	MCF-7	breast:
13	chr6:101167975..101170318-chr6:101170858..101173669,2	MCF-7	breast:
14	chr6:101286650..101289518-chr6:101298601..101300535,2	K562	blood:
15	chr6:101209490..101212282-chr6:101220701..101222580,2	MCF-7	breast:
16	chr6:101184266..101186701-chr6:101321079..101322607,2	K562	blood:
17	chr6:101302214..101305047-chr6:101327915..101330416,2	MCF-7	breast:
18	chr6:101286243..101289209-chr6:101295205..101297234,2	K562	blood:
19	chr6:101253793..101256720-chr6:101258075..101261197,3	MCF-7	breast:
20	chr6:101221571..101223322-chr6:101224245..101227065,4	K562	blood:
21	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
22	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
23	chr6:101271641..101274156-chr6:101276043..101277591,3	K562	blood:
24	chr6:101177164..101179781-chr6:101180643..101183395,2	K562	blood:
25	chr6:101294725..101296598-chr6:101316147..101318633,2	K562	blood:
26	chr6:101271307..101273305-chr6:101294411..101297319,2	K562	blood:
27	chr6:101243998..101244878-chr6:101416721..101417385,2	MCF-7	breast:
28	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
29	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:
30	chr6:101302750..101305984-chr6:101307403..101310104,4	K562	blood:
31	chr6:101269410..101270925-chr6:101275181..101277439,2	MCF-7	breast:
32	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:
33	chr6:101286243..101289209-chr6:101295205..101297234,2	K562	blood:
34	chr6:101269410..101270925-chr6:101275181..101277439,2	MCF-7	breast:
35	chr6:101271307..101273305-chr6:101294411..101297319,2	K562	blood:
36	chr6:101299454..101302050-chr6:101304670..101307311,3	MCF-7	breast:
37	chr6:101177164..101179781-chr6:101180643..101183395,2	K562	blood:
38	chr6:101298656..101300924-chr6:101302449..101304215,2	MCF-7	breast:
39	chr6:101227439..101228979-chr6:101229862..101232635,2	MCF-7	breast:
40	chr6:101239952..101241770-chr6:101249281..101252213,2	K562	blood:
41	chr6:101177164..101179260-chr6:101181845..101183395,2	K562	blood:
42	chr6:101174106..101177005-chr6:101178614..101180763,2	K562	blood:
43	chr6:101209793..101211666-chr6:101212559..101214654,2	MCF-7	breast:
44	chr6:101246621..101249156-chr6:101327376..101329870,2	K562	blood:
45	chr6:101169269..101170858-chr6:101198475..101201217,2	MCF-7	breast:
46	chr6:101243854..101246024-chr6:101258576..101260117,2	K562	blood:
47	chr6:101174106..101177005-chr6:101178614..101180763,2	K562	blood:
48	chr6:101253793..101256720-chr6:101258075..101261197,3	MCF-7	breast:
49	chr6:101177164..101179260-chr6:101181845..101183395,2	K562	blood:
50	chr6:101223376..101224309-chr6:101674457..101675224,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112249	chromatin interactions
ENSG00000260000	chromatin interactions

Extended variants
information (count: 4714 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:4714 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574528563	chr6:101172713-101172714	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552649566	chr6:101172714-101172715	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535220747	chr6:101172797-101172798	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180749692	chr6:101172802-101172803	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62420583	chr6:101172808-101172809	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538325290	chr6:101172923-101172924	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558355021	chr6:101172978-101172979	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564489523	chr6:101173000-101173001	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367771732	chr6:101173074-101173075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371188867	chr6:101173100-101173101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576322918	chr6:101173224-101173225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544050121	chr6:101173231-101173232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562143083	chr6:101173249-101173250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529460161	chr6:101173276-101173277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184574223	chr6:101173306-101173307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376158584	chr6:101173309-101173310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575077378	chr6:101173314-101173315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533391577	chr6:101173366-101173367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368933337	chr6:101173371-101173372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78323702	chr6:101173373-101173374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570800333	chr6:101173400-101173401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371900183	chr6:101173407-101173408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561063638	chr6:101173408-101173409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74649696	chr6:101173413-101173414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148096287	chr6:101173419-101173420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142828952	chr6:101173446-101173447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373793004	chr6:101173588-101173589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143884344	chr6:101173644-101173645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12664223	chr6:101173674-101173675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568179229	chr6:101173714-101173715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6937520	chr6:101173735-101173736	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553480946	chr6:101173777-101173778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565436299	chr6:101173836-101173837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111562649	chr6:101173839-101173840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71556073	chr6:101173840-101173841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539148247	chr6:101173841-101173842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12190574	chr6:101173842-101173843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541307129	chr6:101173856-101173857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199692955	chr6:101173868-101173869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555220647	chr6:101173894-101173895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543779895	chr6:101173924-101173925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148016869	chr6:101173943-101173944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574185512	chr6:101173994-101173995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541590851	chr6:101174027-101174028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559932410	chr6:101174049-101174050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12664278	chr6:101174070-101174071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201368613	chr6:101174102-101174103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186429788	chr6:101174112-101174113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530901705	chr6:101174123-101174124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12216304	chr6:101174161-101174162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

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
Autism	22543975	CNVD

Chromatin state (count:1785 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
2	chr6:101142400-101189600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:101145400-101175600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:101147800-101190000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:101148200-101175600	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:101148200-101189600	Weak transcription	Placenta	Placenta
7	chr6:101148600-101173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:101148600-101177800	Weak transcription	Fetal Lung	lung
9	chr6:101148600-101184400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:101149400-101174400	Weak transcription	Esophagus	oesophagus
11	chr6:101149600-101190000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:101149800-101175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:101150000-101174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:101150200-101190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:101150200-101190000	Weak transcription	Ovary	ovary
16	chr6:101150200-101190600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:101150400-101175600	Weak transcription	NHEK	skin
18	chr6:101151000-101174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:101151400-101185600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:101156000-101190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:101157400-101190000	Weak transcription	HepG2	liver
22	chr6:101161400-101174800	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:101161600-101185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:101162000-101189600	Weak transcription	HMEC	breast
25	chr6:101163000-101173200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:101163200-101179600	Weak transcription	Fetal Intestine Small	intestine
27	chr6:101164600-101190200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:101164600-101190200	Weak transcription	Fetal Thymus	thymus
29	chr6:101165000-101174600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:101166200-101211000	Weak transcription	NH-A	brain
31	chr6:101168400-101174600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:101168400-101174600	Weak transcription	NHDF-Ad	bronchial
33	chr6:101168600-101174600	Weak transcription	NHLF	lung
34	chr6:101168600-101174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:101168600-101174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:101168600-101175000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:101168600-101175200	Weak transcription	Adipose Nuclei	Adipose
38	chr6:101168600-101177200	Weak transcription	Hela-S3	cervix
39	chr6:101168600-101179200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:101168600-101180600	Weak transcription	HUVEC	blood vessel
41	chr6:101168600-101189600	Weak transcription	Liver	Liver
42	chr6:101168600-101189800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:101168600-101190000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:101168600-101211200	Weak transcription	Osteobl	bone
45	chr6:101169000-101190000	Weak transcription	Gastric	stomach
46	chr6:101169000-101211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:101169400-101174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:101170000-101174400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:101170400-101186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:101170800-101173400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links