Variant report

Variant	esv3412951
Chromosome Location	chr1:10796095-10796597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10770350..10771237-chr1:10795718..10796246,2	MCF-7	breast:
2	chr1:10782189..10784150-chr1:10795398..10797015,2	K562	blood:
3	chr1:10795746..10798099-chr1:10799422..10802020,2	K562	blood:
4	chr1:10784744..10785323-chr1:10795558..10796339,2	MCF-7	breast:
5	chr1:10795633..10796463-chr1:10810945..10811751,3	MCF-7	breast:
6	chr1:10795633..10796463-chr1:10810924..10811751,4	MCF-7	breast:
7	chr1:10785675..10789087-chr1:10792936..10797329,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192754722	chr1:10796121-10796122	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144616547	chr1:10796122-10796123	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541428341	chr1:10796219-10796220	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368061122	chr1:10796236-10796237	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574493639	chr1:10796281-10796282	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139626479	chr1:10796282-10796283	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111427140	chr1:10796316-10796317	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568398216	chr1:10796322-10796323	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145258131	chr1:10796328-10796329	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs520262	chr1:10796332-10796333	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544172116	chr1:10796338-10796339	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565254496	chr1:10796349-10796350	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114773315	chr1:10796365-10796366	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541431344	chr1:10796398-10796399	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533951612	chr1:10796476-10796477	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs530213506	chr1:10796499-10796500	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs113606479	chr1:10796526-10796527	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs17035646	chr1:10796547-10796548	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10789400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10792400-10797400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:10792800-10796600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:10792800-10800600	Enhancers	Right Ventricle	heart
5	chr1:10792800-10801600	Enhancers	Fetal Heart	heart
6	chr1:10793000-10796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:10793000-10800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:10793200-10796400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10793600-10806400	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:10793800-10796200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr1:10793800-10800400	Enhancers	Stomach Mucosa	stomach
12	chr1:10794000-10796200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:10794200-10796200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:10794200-10799200	Weak transcription	Small Intestine	intestine
15	chr1:10794200-10800800	Enhancers	Fetal Brain Male	brain
16	chr1:10794400-10796200	Enhancers	Colon Smooth Muscle	Colon
17	chr1:10794400-10796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10794400-10796800	Weak transcription	HMEC	breast
19	chr1:10794400-10798000	Weak transcription	NHEK	skin
20	chr1:10794600-10798600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr1:10794800-10796400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr1:10794800-10800600	Enhancers	Left Ventricle	heart
23	chr1:10795000-10796200	Enhancers	Fetal Lung	lung
24	chr1:10795000-10796200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:10795200-10797600	Weak transcription	Fetal Kidney	kidney
26	chr1:10795400-10796800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:10795400-10797400	Enhancers	Gastric	stomach
28	chr1:10795400-10798800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:10795400-10799600	Enhancers	Lung	lung
30	chr1:10795400-10799600	Enhancers	Spleen	Spleen
31	chr1:10795600-10796200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr1:10795600-10796200	Enhancers	Fetal Intestine Small	intestine
33	chr1:10795600-10796200	Enhancers	Psoas Muscle	Psoas
34	chr1:10795600-10796200	Enhancers	HSMMtube	muscle
35	chr1:10795600-10799600	Enhancers	Colonic Mucosa	Colon
36	chr1:10795600-10800200	Enhancers	Brain Germinal Matrix	brain
37	chr1:10795800-10796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:10795800-10796400	Genic enhancers	Esophagus	oesophagus
39	chr1:10795800-10796400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr1:10795800-10797400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:10795800-10797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:10795800-10798000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:10795800-10798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:10795800-10798400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:10795800-10798800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:10795800-10798800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:10795800-10800000	Enhancers	Pancreas	Pancrea
48	chr1:10795800-10800400	Enhancers	Fetal Brain Female	brain
49	chr1:10796000-10796200	Enhancers	Brain Hippocampus Middle	brain
50	chr1:10796000-10796200	Enhancers	Skeletal Muscle Female	skeletal muscle

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