Variant report

Variant	nsv1032561
Chromosome Location	chr6:140859250-140908576
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
2	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
3	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:
4	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
5	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
6	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
7	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
8	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
9	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
10	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
11	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
12	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
13	chr6:140858927..140861812-chr6:141885115..141886624,2	MCF-7	breast:
14	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
15	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
16	chr6:139694080..139696813-chr6:140857145..140860019,3	MCF-7	breast:
17	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
18	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
19	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
20	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 1299 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191422335	chr6:140859266-140859267	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542865425	chr6:140859279-140859280	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6570399	chr6:140859280-140859281	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531913613	chr6:140859286-140859287	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544172162	chr6:140859289-140859290	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115528286	chr6:140859314-140859315	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532582399	chr6:140859323-140859324	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567467500	chr6:140859327-140859328	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144234956	chr6:140859425-140859426	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184906390	chr6:140859475-140859476	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368214790	chr6:140859524-140859525	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530096871	chr6:140859533-140859534	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539365843	chr6:140859538-140859539	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537738850	chr6:140859565-140859566	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549697819	chr6:140859588-140859589	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549911522	chr6:140859599-140859600	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148314185	chr6:140859651-140859652	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538267639	chr6:140859669-140859670	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111233535	chr6:140859769-140859770	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189419941	chr6:140859806-140859807	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572052769	chr6:140859809-140859810	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570301118	chr6:140859843-140859844	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112781513	chr6:140859853-140859854	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554859461	chr6:140859892-140859893	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576745964	chr6:140859920-140859921	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375995329	chr6:140859925-140859926	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544109061	chr6:140859930-140859931	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182053313	chr6:140859931-140859932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577277790	chr6:140859954-140859955	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541076904	chr6:140859960-140859961	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374869233	chr6:140859974-140859975	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530135782	chr6:140860002-140860003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548705175	chr6:140860030-140860031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186637802	chr6:140860051-140860052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531428891	chr6:140860111-140860112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71562553	chr6:140860123-140860124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549636645	chr6:140860129-140860130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571222547	chr6:140860151-140860152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538204122	chr6:140860216-140860217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116967361	chr6:140860272-140860273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188856338	chr6:140860308-140860309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181993457	chr6:140860314-140860315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538979986	chr6:140860453-140860454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554679377	chr6:140860491-140860492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559328599	chr6:140860513-140860514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186215272	chr6:140860547-140860548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566258236	chr6:140860557-140860558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537659830	chr6:140860580-140860581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189896187	chr6:140860618-140860619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577615475	chr6:140860625-140860626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140856400-140860200	Weak transcription	Left Ventricle	heart
2	chr6:140857200-140861000	Enhancers	NHLF	lung
3	chr6:140857600-140860400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:140858200-140860400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:140858200-140860400	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:140858400-140859400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:140858400-140859400	Enhancers	Placenta	Placenta
8	chr6:140858400-140859400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:140858400-140859400	Enhancers	HSMMtube	muscle
10	chr6:140858400-140859600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:140858400-140859600	Enhancers	Fetal Kidney	kidney
12	chr6:140858400-140859800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:140858400-140859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:140858400-140859800	Enhancers	Fetal Lung	lung
15	chr6:140858400-140860000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:140858400-140860000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:140858400-140860200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:140858400-140860400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:140858400-140860400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:140858400-140860400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:140858400-140860400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:140858400-140860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:140858400-140861000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:140858600-140859400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr6:140858600-140859800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:140858600-140859800	Active TSS	A549	lung
27	chr6:140858600-140860200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:140858600-140860200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:140858600-140860400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:140858600-140860400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:140858600-140860400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:140858800-140859400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:140858800-140859400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:140858800-140859400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr6:140858800-140859400	Flanking Active TSS	Psoas Muscle	Psoas
36	chr6:140858800-140859400	Flanking Active TSS	HMEC	breast
37	chr6:140858800-140859600	Enhancers	Stomach Mucosa	stomach
38	chr6:140858800-140859600	Enhancers	Hela-S3	cervix
39	chr6:140858800-140860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:140858800-140860000	Enhancers	Fetal Brain Female	brain
41	chr6:140858800-140860000	Enhancers	HUVEC	blood vessel
42	chr6:140858800-140860200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:140859000-140859400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:140859000-140859400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:140859000-140859400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:140859000-140859400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:140859000-140859400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:140859000-140859400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:140859000-140859400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:140859000-140859400	Enhancers	Fetal Muscle Leg	muscle

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