Variant report

Variant	nsv463987
Chromosome Location	chr6:101036713-101078718
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
2	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
3	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
4	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
5	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
6	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
7	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
8	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
9	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
10	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
11	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
12	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
13	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
14	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124225	chromatin interactions

Extended variants
information (count: 1488 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs997229	chr6:101036713-101036714	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140537240	chr6:101036719-101036720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183187298	chr6:101036760-101036761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187300094	chr6:101036788-101036789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191385804	chr6:101036822-101036823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10499031	chr6:101036834-101036835	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564819594	chr6:101036873-101036874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532901213	chr6:101036909-101036910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544908672	chr6:101036917-101036918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563128596	chr6:101036920-101036921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570375273	chr6:101036949-101036950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182476262	chr6:101037014-101037015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376504217	chr6:101037040-101037041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376026965	chr6:101037048-101037049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566861613	chr6:101037056-101037057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535750710	chr6:101037091-101037092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34645625	chr6:101037169-101037170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187700464	chr6:101037209-101037210	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552200588	chr6:101037218-101037219	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193259880	chr6:101037226-101037227	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538581072	chr6:101037242-101037243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555598666	chr6:101037273-101037274	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569105191	chr6:101037340-101037341	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369971817	chr6:101037468-101037469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371924783	chr6:101037482-101037483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199670070	chr6:101037512-101037513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141707927	chr6:101037548-101037549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375679348	chr6:101037556-101037557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565351738	chr6:101037595-101037596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368543720	chr6:101037599-101037600	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150239828	chr6:101037600-101037601	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572976132	chr6:101037604-101037605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540325698	chr6:101037608-101037609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371661297	chr6:101037637-101037638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552931258	chr6:101037656-101037657	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568142361	chr6:101037666-101037667	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs240166	chr6:101037678-101037679	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs576887472	chr6:101037679-101037680	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369013918	chr6:101037696-101037697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1006398	chr6:101037718-101037719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530379906	chr6:101037725-101037726	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185025774	chr6:101037737-101037738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377457795	chr6:101037749-101037750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527822072	chr6:101037763-101037764	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552237004	chr6:101037799-101037800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577646621	chr6:101037827-101037828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35011147	chr6:101037839-101037840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547633655	chr6:101037861-101037862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371243896	chr6:101037882-101037883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375204647	chr6:101037892-101037893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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

Chromatin state (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101009000-101065600	Weak transcription	NHEK	skin
2	chr6:101011000-101080800	Weak transcription	HepG2	liver
3	chr6:101015800-101049200	Weak transcription	Esophagus	oesophagus
4	chr6:101016400-101065800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:101017200-101069400	Weak transcription	Fetal Lung	lung
6	chr6:101017800-101069800	Weak transcription	Lung	lung
7	chr6:101018400-101051200	Weak transcription	Right Ventricle	heart
8	chr6:101018600-101038400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:101018600-101040800	Weak transcription	HSMMtube	muscle
10	chr6:101019000-101047800	Weak transcription	Small Intestine	intestine
11	chr6:101020400-101036800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:101020400-101066200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:101023200-101037200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:101025800-101099800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:101027800-101049600	Weak transcription	Fetal Kidney	kidney
16	chr6:101027800-101070000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:101028000-101068800	Weak transcription	Psoas Muscle	Psoas
18	chr6:101030200-101070000	Weak transcription	Aorta	Aorta
19	chr6:101031200-101048600	Weak transcription	Brain Anterior Caudate	brain
20	chr6:101032200-101038200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:101032400-101102000	Weak transcription	Thymus	Thymus
22	chr6:101032400-101104400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:101032600-101046600	Weak transcription	Gastric	stomach
24	chr6:101032600-101047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:101032600-101102000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:101032600-101110400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:101032800-101065600	Weak transcription	Colonic Mucosa	Colon
28	chr6:101033000-101048600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:101033400-101036800	Weak transcription	Fetal Heart	heart
30	chr6:101033400-101038000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:101033400-101038200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:101033400-101048400	Weak transcription	HUVEC	blood vessel
33	chr6:101033600-101037600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:101033600-101057600	Weak transcription	Brain Angular Gyrus	brain
35	chr6:101033800-101037200	Weak transcription	NHLF	lung
36	chr6:101033800-101037600	Strong transcription	Adipose Nuclei	Adipose
37	chr6:101033800-101037800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:101033800-101038600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:101033800-101065400	Weak transcription	Hela-S3	cervix
40	chr6:101034000-101037600	Strong transcription	Fetal Intestine Large	intestine
41	chr6:101034000-101037800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:101034000-101038000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:101034000-101039000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:101034000-101085000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:101034200-101037600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:101034200-101038200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:101034400-101037000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:101034400-101037600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:101034400-101037600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:101034400-101037600	Strong transcription	Placenta	Placenta

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