Variant report

Variant	esv988198
Chromosome Location	chr1:210707300-210716552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
2	chr1:210542669..210544192-chr1:210705476..210708034,2	MCF-7	breast:
3	chr1:210701301..210703665-chr1:210706894..210708903,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-5	chr1:210707632-210707708	NONHSAT009268

Extended variants
information (count: 445 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552466046	chr1:210707305-210707306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4845046	chr1:210707324-210707325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537907675	chr1:210707325-210707326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549902863	chr1:210707343-210707344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568110579	chr1:210707363-210707364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535510029	chr1:210707367-210707368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139568437	chr1:210707375-210707376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573020658	chr1:210707381-210707382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556455772	chr1:210707389-210707390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534118447	chr1:210707411-210707412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558740609	chr1:210707425-210707426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11119530	chr1:210707455-210707456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541627261	chr1:210707460-210707461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192077361	chr1:210707461-210707462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556318673	chr1:210707470-210707471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545008014	chr1:210707477-210707478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541424074	chr1:210707480-210707481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560114178	chr1:210707486-210707487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527931844	chr1:210707534-210707535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546096696	chr1:210707545-210707546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564330082	chr1:210707565-210707566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370118436	chr1:210707571-210707572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558332874	chr1:210707578-210707579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11119531	chr1:210707583-210707584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371386661	chr1:210707598-210707599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529405337	chr1:210707605-210707606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183300634	chr1:210707615-210707616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566070471	chr1:210707663-210707664	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs142786840	chr1:210707667-210707668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs114360962	chr1:210707670-210707671	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs377492725	chr1:210707686-210707687	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs563626819	chr1:210707704-210707705	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs199715965	chr1:210707724-210707725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561139101	chr1:210707731-210707732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138892048	chr1:210707732-210707733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10779535	chr1:210707733-210707734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371826217	chr1:210707752-210707753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191100219	chr1:210707777-210707778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556406086	chr1:210707786-210707787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151065849	chr1:210707797-210707798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543689108	chr1:210707848-210707849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12124286	chr1:210707885-210707886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532241450	chr1:210707970-210707971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553447339	chr1:210707984-210707985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6540604	chr1:210708026-210708027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs578179718	chr1:210708031-210708032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182100041	chr1:210708051-210708052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564468429	chr1:210708066-210708067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114565720	chr1:210708069-210708070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543577065	chr1:210708125-210708126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210700800-210708800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:210700800-210709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210703200-210708200	Weak transcription	HSMMtube	muscle
6	chr1:210704000-210709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:210704200-210708600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:210704200-210708800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:210704400-210708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:210704400-210708600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:210705000-210708600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:210706600-210708800	Weak transcription	Fetal Heart	heart
13	chr1:210708200-210710200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:210708200-210711000	Enhancers	HSMMtube	muscle
15	chr1:210708400-210708800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:210708400-210709200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:210708400-210710000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:210708400-210710000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210708400-210710000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:210708400-210710200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:210708400-210710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:210708600-210710000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:210708600-210710200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:210708600-210710200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:210708600-210710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:210708600-210710400	Enhancers	Fetal Brain Male	brain
27	chr1:210708800-210709000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:210708800-210709400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:210708800-210709800	Enhancers	Brain Germinal Matrix	brain
30	chr1:210708800-210710200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:210708800-210710400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:210708800-210710400	Enhancers	Fetal Muscle Leg	muscle
33	chr1:210708800-210710600	Enhancers	Fetal Heart	heart
34	chr1:210709000-210710000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:210709000-210710000	Enhancers	Fetal Brain Female	brain
36	chr1:210709000-210710200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:210709000-210710400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:210709200-210709800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:210709200-210710200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:210709200-210710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:210709200-210710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:210709200-210710800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:210709400-210710000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:210709400-210715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:210709600-210710000	Enhancers	Brain Substantia Nigra	brain
46	chr1:210709600-210710200	Enhancers	Brain Angular Gyrus	brain
47	chr1:210709600-210710800	Enhancers	Brain Hippocampus Middle	brain
48	chr1:210709800-210710400	Enhancers	A549	lung
49	chr1:210709800-210710800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:210709800-210711000	Enhancers	Brain Inferior Temporal Lobe	brain

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