Variant report

Variant	esv3348452
Chromosome Location	chr1:210827024-210827384
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	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
2	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541614243	chr1:210827027-210827028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189579594	chr1:210827066-210827067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578115691	chr1:210827141-210827142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542707926	chr1:210827143-210827144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72468063	chr1:210827178-210827179	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192034962	chr1:210827182-210827183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116203723	chr1:210827189-210827190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550082963	chr1:210827195-210827196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116276978	chr1:210827225-210827226	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75303696	chr1:210827231-210827232	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561619849	chr1:210827246-210827247	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368538520	chr1:210827247-210827248	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372347285	chr1:210827251-210827252	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371999567	chr1:210827264-210827265	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374986153	chr1:210827265-210827266	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76959141	chr1:210827271-210827272	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375590348	chr1:210827276-210827277	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373403107	chr1:210827277-210827278	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71638179	chr1:210827280-210827281	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368996547	chr1:210827294-210827295	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373439459	chr1:210827295-210827296	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369868842	chr1:210827305-210827306	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377460216	chr1:210827307-210827308	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372861871	chr1:210827308-210827309	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61827423	chr1:210827313-210827314	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375035781	chr1:210827320-210827321	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28739298	chr1:210827321-210827322	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368829940	chr1:210827322-210827323	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540206432	chr1:210827323-210827324	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74199132	chr1:210827327-210827328	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76503611	chr1:210827329-210827330	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61827424	chr1:210827335-210827336	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373958526	chr1:210827349-210827350	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75970630	chr1:210827366-210827367	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74417150	chr1:210827367-210827368	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372539481	chr1:210827377-210827378	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200296404	chr1:210827379-210827380	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376381340	chr1:210827380-210827381	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210819400-210827200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:210819600-210827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:210821000-210827200	Weak transcription	Ovary	ovary
5	chr1:210821400-210827200	Weak transcription	Right Ventricle	heart
6	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
7	chr1:210821600-210827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:210821600-210827200	Weak transcription	HSMMtube	muscle
9	chr1:210821800-210827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:210821800-210827200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:210821800-210827200	Weak transcription	HSMM	muscle
12	chr1:210822000-210827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:210822600-210827200	Weak transcription	Fetal Lung	lung
14	chr1:210823200-210827200	Weak transcription	Aorta	Aorta
15	chr1:210823200-210827200	Weak transcription	Fetal Brain Male	brain
16	chr1:210823800-210827200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:210823800-210827200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:210823800-210828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:210824200-210827200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:210824200-210827200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:210824200-210827200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:210824200-210827200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:210824200-210830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:210824600-210827200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:210825200-210827200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:210825800-210827200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:210826000-210827200	Weak transcription	Fetal Heart	heart
28	chr1:210826000-210827200	Weak transcription	Lung	lung
29	chr1:210826200-210827200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:210826400-210827200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:210826400-210827200	Weak transcription	Esophagus	oesophagus
32	chr1:210826400-210827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:210826800-210827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:210826800-210827200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:210827000-210827200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:210827000-210827200	Weak transcription	Liver	Liver
37	chr1:210827000-210827400	ZNF genes & repeats	HepG2	liver
38	chr1:210827000-210827600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr1:210827000-210827600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:210827000-210827600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:210827000-210827600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:210827000-210827600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr1:210827000-210827600	ZNF genes & repeats	Gastric	stomach
44	chr1:210827000-210827600	ZNF genes & repeats	Pancreas	Pancrea
45	chr1:210827000-210827600	ZNF genes & repeats	A549	lung
46	chr1:210827000-210827600	ZNF genes & repeats	NHLF	lung
47	chr1:210827000-210827800	ZNF genes & repeats	Spleen	Spleen
48	chr1:210827200-210827400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr1:210827200-210827400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr1:210827200-210827400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links