Variant report

Variant	esv3414642
Chromosome Location	chr6:119558639-119559062
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	chr5:97899000..97899520-chr6:119558658..119559166,2	MCF-7	breast:
2	chr6:119558682..119563599-chr6:119563682..119567581,7	K562	blood:
3	chr17:31149607..31151366-chr6:119557105..119558640,4	MCF-7	breast:
4	chr17:31149704..31150368-chr6:119558097..119558654,7	MCF-7	breast:
5	chr17:31149674..31150358-chr6:119558127..119558653,2	MCF-7	breast:
6	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
7	chr17:31149136..31150335-chr6:119558116..119559093,4	MCF-7	breast:
8	chr2:133035511..133036512-chr6:119558095..119559109,4	MCF-7	breast:
9	chr14:69094863..69095363-chr6:119558123..119558642,2	MCF-7	breast:
10	chr3:115538408..115539011-chr6:119558162..119559112,2	MCF-7	breast:
11	chr17:31149419..31151377-chr6:119557104..119560086,5	MCF-7	breast:
12	chr6:119558122..119561935-chr6:119561959..119566839,6	K562	blood:
13	chr21:9825830..9826433-chr6:119558579..119559086,2	MCF-7	breast:
14	chr10:15761863..15762363-chr6:119558104..119558642,2	MCF-7	breast:
15	chr2:133035372..133036357-chr6:119558115..119558640,6	MCF-7	breast:
16	chr2:133035208..133036380-chr6:119558135..119559188,4	MCF-7	breast:
17	chr17:31149433..31150364-chr6:119558113..119558662,6	MCF-7	breast:
18	chr17:31149433..31151344-chr6:119557133..119558665,2	K562	blood:
19	chr2:133034721..133036011-chr6:119558119..119559094,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000077943	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62418827	chr6:119558655-119558656	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62418828	chr6:119558663-119558664	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375663681	chr6:119558683-119558684	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs80040325	chr6:119558684-119558685	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs74899924	chr6:119558692-119558693	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549214493	chr6:119558697-119558698	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374725129	chr6:119558698-119558699	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs80340645	chr6:119558702-119558703	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367648901	chr6:119558703-119558704	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372860518	chr6:119558705-119558706	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376723120	chr6:119558707-119558708	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369730371	chr6:119558708-119558709	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375320395	chr6:119558712-119558713	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74696244	chr6:119558713-119558714	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371051062	chr6:119558715-119558716	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373990013	chr6:119558718-119558719	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367875762	chr6:119558722-119558723	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371675271	chr6:119558724-119558725	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369116686	chr6:119558726-119558727	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562831648	chr6:119558728-119558729	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376694724	chr6:119558730-119558731	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367620632	chr6:119558734-119558735	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372868815	chr6:119558738-119558739	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146027735	chr6:119558746-119558747	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371098298	chr6:119558762-119558763	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182481690	chr6:119558841-119558842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147845634	chr6:119558894-119558895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547939285	chr6:119558930-119558931	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148909912	chr6:119558933-119558934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185981842	chr6:119558968-119558969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190493638	chr6:119559000-119559001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs377593573	chr6:119559008-119559009	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs568659370	chr6:119559012-119559013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs72960631	chr6:119559013-119559014	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557368945	chr6:119559020-119559021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184069698	chr6:119559036-119559037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188895699	chr6:119559058-119559059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119550000-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:119556200-119558800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr6:119556600-119558800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:119556600-119558800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:119557000-119558800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr6:119558400-119558800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr6:119558400-119558800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr6:119558400-119558800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:119558400-119558800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:119558400-119558800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:119558400-119558800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:119558400-119558800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr6:119558400-119558800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:119558400-119558800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:119558400-119558800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:119558400-119558800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr6:119558400-119558800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr6:119558400-119558800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr6:119558400-119558800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:119558400-119558800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr6:119558400-119558800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr6:119558400-119558800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr6:119558400-119558800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:119558400-119558800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:119558400-119558800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:119558400-119558800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:119558400-119558800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:119558400-119558800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr6:119558400-119558800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr6:119558400-119558800	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr6:119558400-119558800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr6:119558400-119558800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr6:119558400-119558800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr6:119558400-119558800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:119558400-119558800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr6:119558400-119558800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:119558400-119558800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr6:119558400-119558800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:119558400-119558800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr6:119558400-119558800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr6:119558400-119558800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood

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