Variant report

Variant	nsv1011702
Chromosome Location	chr1:210706323-210739030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:
2	chr1:210545788..210547730-chr1:210731704..210733690,2	K562	blood:
3	chr1:210701301..210703665-chr1:210706894..210708903,2	MCF-7	breast:
4	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
5	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
6	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:
7	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
8	chr1:210542669..210544192-chr1:210705476..210708034,2	MCF-7	breast:
9	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-5	chr1:210707632-210707708	NONHSAT009268
2	lnc-KCNH1-5	chr1:210706781-210707062	NONHSAT009268

No data

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1450 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4344331	chr1:210706323-210706324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140191708	chr1:210706334-210706335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544761654	chr1:210706335-210706336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184790447	chr1:210706348-210706349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376151118	chr1:210706355-210706356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542516341	chr1:210706438-210706439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565017679	chr1:210706458-210706459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561097152	chr1:210706511-210706512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368407723	chr1:210706518-210706519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371547240	chr1:210706529-210706530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142288526	chr1:210706531-210706532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77059558	chr1:210706532-210706533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61122816	chr1:210706533-210706534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572995769	chr1:210706547-210706548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58599805	chr1:210706573-210706574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564859411	chr1:210706597-210706598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188085253	chr1:210706598-210706599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547598494	chr1:210706601-210706602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67269543	chr1:210706694-210706695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11119529	chr1:210706807-210706808	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115831999	chr1:210706825-210706826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530374297	chr1:210706878-210706879	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs76566914	chr1:210706894-210706895	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs567049791	chr1:210706923-210706924	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs534154840	chr1:210706931-210706932	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs536333484	chr1:210706932-210706933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs180714503	chr1:210706934-210706935	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs78431337	chr1:210706948-210706949	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537969694	chr1:210706953-210706954	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs556091191	chr1:210706972-210706973	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs4845044	chr1:210706989-210706990	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs111385439	chr1:210707015-210707016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs554614913	chr1:210707023-210707024	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs146872537	chr1:210707029-210707030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372998007	chr1:210707037-210707038	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs191001040	chr1:210707050-210707051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs4845045	chr1:210707065-210707066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs576986932	chr1:210707068-210707069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181412839	chr1:210707087-210707088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36041358	chr1:210707150-210707151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72387769	chr1:210707155-210707156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60096492	chr1:210707158-210707159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562430951	chr1:210707175-210707176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529758479	chr1:210707180-210707181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558994597	chr1:210707192-210707193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552363123	chr1:210707214-210707215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186726979	chr1:210707216-210707217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145291246	chr1:210707223-210707224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560653865	chr1:210707243-210707244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554013853	chr1:210707247-210707248	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:151 , 50 per page) page: 1 2 3 4

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	chr1:210704600-210706600	Enhancers	Fetal Heart	heart
12	chr1:210705000-210708600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:210706600-210708800	Weak transcription	Fetal Heart	heart
14	chr1:210708200-210710200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:210708200-210711000	Enhancers	HSMMtube	muscle
16	chr1:210708400-210708800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:210708400-210709200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210708400-210710000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:210708400-210710000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:210708400-210710000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:210708400-210710200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:210708400-210710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:210708600-210710000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:210708600-210710200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:210708600-210710200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:210708600-210710400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:210708600-210710400	Enhancers	Fetal Brain Male	brain
28	chr1:210708800-210709000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:210708800-210709400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:210708800-210709800	Enhancers	Brain Germinal Matrix	brain
31	chr1:210708800-210710200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:210708800-210710400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:210708800-210710400	Enhancers	Fetal Muscle Leg	muscle
34	chr1:210708800-210710600	Enhancers	Fetal Heart	heart
35	chr1:210709000-210710000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:210709000-210710000	Enhancers	Fetal Brain Female	brain
37	chr1:210709000-210710200	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:210709000-210710400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:210709200-210709800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:210709200-210710200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:210709200-210710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:210709200-210710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:210709200-210710800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:210709400-210710000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:210709400-210715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:210709600-210710000	Enhancers	Brain Substantia Nigra	brain
47	chr1:210709600-210710200	Enhancers	Brain Angular Gyrus	brain
48	chr1:210709600-210710800	Enhancers	Brain Hippocampus Middle	brain
49	chr1:210709800-210710400	Enhancers	A549	lung
50	chr1:210709800-210710800	Weak transcription	Brain Germinal Matrix	brain

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