Variant report

Variant	esv3369953
Chromosome Location	chr6:119345948-119346384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119254455..119256179-chr6:119344238..119346814,2	K562	blood:
2	chr6:119254679..119257709-chr6:119345314..119348815,3	K562	blood:
3	chr6:119346161..119349573-chr6:119350909..119353024,3	K562	blood:
4	chr6:119345576..119347207-chr6:119354495..119357299,2	K562	blood:
5	chr6:119344453..119347404-chr6:119349767..119351941,2	K562	blood:

Variant related genes	Relation type
ENSG00000253194	chromatin interactions
ENSG00000111877	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41292562	chr6:119345985-119345986	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371077012	chr6:119345991-119345992	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374177114	chr6:119345993-119345994	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs41292564	chr6:119346004-119346005	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1775613	chr6:119346010-119346011	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147961166	chr6:119346020-119346021	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552328815	chr6:119346077-119346078	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566062188	chr6:119346107-119346108	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538780336	chr6:119346126-119346127	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs41292566	chr6:119346128-119346129	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554627480	chr6:119346130-119346131	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568178956	chr6:119346168-119346169	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76899752	chr6:119346187-119346188	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141828349	chr6:119346195-119346196	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572962686	chr6:119346206-119346207	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557479188	chr6:119346263-119346264	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577475253	chr6:119346281-119346282	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114681192	chr6:119346287-119346288	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147095749	chr6:119346299-119346300	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572051094	chr6:119346379-119346380	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:119325400-119349600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:119328600-119348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:119330400-119347000	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:119331400-119349800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:119331400-119356000	Weak transcription	Ovary	ovary
7	chr6:119331600-119349200	Weak transcription	Adipose Nuclei	Adipose
8	chr6:119331600-119355800	Weak transcription	K562	blood
9	chr6:119334200-119355800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:119334800-119347000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:119339400-119356200	Weak transcription	Placenta	Placenta
12	chr6:119340200-119347000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:119341400-119346200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:119341400-119356200	Weak transcription	Fetal Stomach	stomach
15	chr6:119343400-119356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:119343600-119355800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:119343800-119349800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:119344000-119347000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:119344600-119348400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:119344800-119346000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:119344800-119346000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:119345000-119346000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:119345200-119346000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:119345200-119346200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:119345200-119349200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:119345200-119350400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:119345400-119346200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:119345600-119346200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:119345600-119346800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:119345600-119347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:119345800-119346600	Weak transcription	Fetal Lung	lung
32	chr6:119345800-119346800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr6:119345800-119349600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:119345800-119350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:119346000-119347000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:119346000-119348200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:119346000-119350000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:119346200-119346400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:119346200-119346600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:119346200-119346600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:119346200-119349000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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