Variant report

Variant	nsv1030089
Chromosome Location	chr6:118436482-118604516
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118497942..118499914-chr6:118507313..118509277,2	K562	blood:
2	chr6:118517764..118519437-chr6:118521180..118522818,2	K562	blood:
3	chr6:118461374..118463460-chr6:118465097..118466789,2	K562	blood:
4	chr6:118571150..118573393-chr6:118577208..118579127,2	K562	blood:
5	chr6:118597232..118599796-chr6:118601917..118603550,2	K562	blood:
6	chr6:118531631..118532132-chr8:117727994..117728563,2	MCF-7	breast:
7	chr6:118453596..118455211-chr6:118457163..118459104,2	K562	blood:
8	chr6:118517764..118519437-chr6:118521180..118522818,2	K562	blood:
9	chr6:118499027..118502230-chr6:118502546..118505884,3	K562	blood:
10	chr6:118583891..118586738-chr6:118590276..118592414,3	K562	blood:
11	chr6:118523328..118525793-chr6:118533182..118535157,2	K562	blood:
12	chr6:118597232..118599796-chr6:118601917..118603550,2	K562	blood:
13	chr6:118587825..118590155-chr6:118594308..118596431,2	K562	blood:
14	chr6:118453596..118455211-chr6:118457163..118459104,2	K562	blood:
15	chr6:118497942..118499914-chr6:118507313..118509277,2	K562	blood:
16	chr6:118296981..118297885-chr6:118584825..118585802,4	MCF-7	breast:
17	chr6:118467974..118468474-chr7:1126259..1126836,2	MCF-7	breast:
18	chr6:118600492..118602837-chr7:25529046..25531923,2	MCF-7	breast:
19	chr6:118587825..118590155-chr6:118594308..118596431,2	K562	blood:
20	chr6:118523328..118525793-chr6:118533182..118535157,2	K562	blood:
21	chr6:118499027..118502230-chr6:118502546..118505884,3	K562	blood:
22	chr6:118580067..118582509-chr6:118587537..118590016,2	K562	blood:
23	chr6:118580067..118582509-chr6:118587537..118590016,2	K562	blood:
24	chr6:118520065..118521759-chr6:118524988..118527142,2	K562	blood:
25	chr6:118583891..118586738-chr6:118590276..118592414,3	K562	blood:
26	chr6:118461374..118463460-chr6:118465097..118466789,2	K562	blood:
27	chr6:118520065..118521759-chr6:118524988..118527142,2	K562	blood:
28	chr6:118571150..118573393-chr6:118577208..118579127,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164850	chromatin interactions

Extended variants
information (count: 5656 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:5656 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571589295	chr6:118436490-118436491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181085887	chr6:118436504-118436505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144076512	chr6:118436566-118436567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150204340	chr6:118437453-118437454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188926671	chr6:118437456-118437457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565897658	chr6:118437468-118437469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529835942	chr6:118437517-118437518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145702577	chr6:118437539-118437540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527395919	chr6:118437543-118437544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181800721	chr6:118437584-118437585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572633430	chr6:118438073-118438074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192106489	chr6:118438159-118438160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555099362	chr6:118438214-118438215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576470255	chr6:118438215-118438216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147117650	chr6:118438220-118438221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182848891	chr6:118438223-118438224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532531035	chr6:118438233-118438234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12203615	chr6:118438261-118438262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559405074	chr6:118438315-118438316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372387100	chr6:118438353-118438354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529972126	chr6:118438366-118438367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548084314	chr6:118438395-118438396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569789862	chr6:118438400-118438401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115641442	chr6:118438406-118438407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79677950	chr6:118438467-118438468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138514449	chr6:118438476-118438477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559111121	chr6:118438477-118438478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566246976	chr6:118438480-118438481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536910905	chr6:118438506-118438507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17079715	chr6:118438518-118438519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576707071	chr6:118438535-118438536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370019215	chr6:118438555-118438556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537574322	chr6:118438634-118438635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559080947	chr6:118438647-118438648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77773889	chr6:118438741-118438742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143992339	chr6:118438799-118438800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146752610	chr6:118438950-118438951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559651190	chr6:118438953-118438954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184903638	chr6:118438974-118438975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75316467	chr6:118438998-118438999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563380949	chr6:118439046-118439047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530596933	chr6:118439095-118439096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551886282	chr6:118439098-118439099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563854025	chr6:118439109-118439110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544706447	chr6:118439116-118439117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113508164	chr6:118439156-118439157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113821966	chr6:118439176-118439177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530544472	chr6:118439183-118439184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189762126	chr6:118439205-118439206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568039764	chr6:118439263-118439264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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	22522925	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118436200-118436600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:118437400-118437600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:118438000-118439400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:118439400-118440200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:118440200-118442200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118441000-118442600	Enhancers	Fetal Heart	heart
7	chr6:118442200-118443600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:118442400-118443600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:118442600-118443000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:118442600-118443600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:118442600-118443800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:118442600-118445800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:118442800-118443600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:118443400-118443800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:118443400-118444000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:118443400-118444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:118443600-118443800	Enhancers	Brain Germinal Matrix	brain
18	chr6:118443600-118444200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr6:118443600-118444200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:118444000-118445000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:118444200-118444400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:118444200-118445800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:118444400-118444600	Enhancers	Brain Germinal Matrix	brain
24	chr6:118445000-118446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:118450400-118450800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:118450400-118451200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:118453400-118456800	Enhancers	Fetal Lung	lung
28	chr6:118454000-118454200	Enhancers	Brain Germinal Matrix	brain
29	chr6:118454000-118454600	Enhancers	Fetal Kidney	kidney
30	chr6:118454000-118457200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:118454000-118457400	Enhancers	Fetal Stomach	stomach
32	chr6:118454000-118460200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:118454200-118454400	Enhancers	Brain Anterior Caudate	brain
34	chr6:118454200-118455200	Weak transcription	Brain Germinal Matrix	brain
35	chr6:118454200-118457200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:118454400-118455400	Weak transcription	Brain Anterior Caudate	brain
37	chr6:118454600-118455000	Weak transcription	Fetal Kidney	kidney
38	chr6:118455000-118455800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:118455000-118455800	Enhancers	Right Atrium	heart
40	chr6:118455000-118456000	Enhancers	Left Ventricle	heart
41	chr6:118455000-118456400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:118455000-118456400	Enhancers	Fetal Kidney	kidney
43	chr6:118455200-118455800	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:118455200-118456200	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:118455200-118457200	Enhancers	Brain Germinal Matrix	brain
46	chr6:118455400-118456200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:118455400-118456400	Enhancers	Brain Anterior Caudate	brain
48	chr6:118455600-118456000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:118455600-118456000	Enhancers	Spleen	Spleen
50	chr6:118455600-118456400	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links