Variant report

Variant	esv3432353
Chromosome Location	chr6:55912873-55918277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55886603..55887384-chr6:55918244..55919071,2	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548279510	chr6:55912890-55912891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148889072	chr6:55912919-55912920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527771067	chr6:55912920-55912921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547521797	chr6:55912941-55912942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111473310	chr6:55912946-55912947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35221377	chr6:55913046-55913047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143538622	chr6:55913061-55913062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191373221	chr6:55913067-55913068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148333234	chr6:55913073-55913074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9396169	chr6:55913090-55913091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372451719	chr6:55913146-55913147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184283082	chr6:55913177-55913178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567995483	chr6:55913276-55913277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572210401	chr6:55913279-55913280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534710548	chr6:55913324-55913325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140505053	chr6:55913366-55913367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9464335	chr6:55913415-55913416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188676462	chr6:55913419-55913420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76684021	chr6:55913460-55913461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35287260	chr6:55913468-55913469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545538145	chr6:55913506-55913507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115705644	chr6:55913553-55913554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558874255	chr6:55913558-55913559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114852551	chr6:55913576-55913577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572331621	chr6:55913588-55913589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527812304	chr6:55913616-55913617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547855814	chr6:55913652-55913653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564341201	chr6:55913659-55913660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533333728	chr6:55913681-55913682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532321486	chr6:55913682-55913683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9475552	chr6:55913691-55913692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569923154	chr6:55913718-55913719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16887544	chr6:55913720-55913721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549244173	chr6:55913760-55913761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2841001	chr6:55913842-55913843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs2841002	chr6:55913867-55913868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs192326001	chr6:55913886-55913887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571176797	chr6:55913964-55913965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537010658	chr6:55914007-55914008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9918316	chr6:55914023-55914024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572909161	chr6:55914062-55914063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144494366	chr6:55914075-55914076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373901729	chr6:55914082-55914083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548345271	chr6:55914083-55914084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369075464	chr6:55914092-55914093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372203951	chr6:55914093-55914094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147054478	chr6:55914127-55914128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76034242	chr6:55914143-55914144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79583304	chr6:55914168-55914169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185107353	chr6:55914328-55914329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55899200-55920400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:55910600-55913800	Enhancers	HUVEC	blood vessel
3	chr6:55910600-55915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:55910600-55915800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:55910800-55914200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:55910800-55916000	Enhancers	Osteobl	bone
7	chr6:55910800-55916400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:55911800-55940800	Weak transcription	Left Ventricle	heart
9	chr6:55912200-55915200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:55912400-55913200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:55912400-55915400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:55913000-55913200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:55913000-55913600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:55913200-55913400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:55913200-55913400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:55913200-55914200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:55913400-55915800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:55914200-55914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:55914200-55916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:55914800-55915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:55915200-55915400	Enhancers	Fetal Heart	heart
22	chr6:55915200-55916200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:55915200-55916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:55915200-55917000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:55915400-55915800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:55915400-55916000	Weak transcription	Fetal Heart	heart
27	chr6:55915400-55916000	Enhancers	Fetal Lung	lung
28	chr6:55915400-55916800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:55915600-55916000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:55915800-55916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:55915800-55916000	Enhancers	Fetal Stomach	stomach
32	chr6:55916000-55916200	Enhancers	Fetal Heart	heart
33	chr6:55916000-55919000	Weak transcription	Osteobl	bone
34	chr6:55916000-55920200	Weak transcription	Fetal Lung	lung
35	chr6:55916000-55927000	Weak transcription	Fetal Stomach	stomach
36	chr6:55916200-55922200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:55916200-55923400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links