Variant report

Variant	nsv520354
Chromosome Location	chr1:213645844-213652148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs1439464	chr1:213645844-213645845	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538932728	chr1:213645850-213645851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17020760	chr1:213645890-213645891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377282876	chr1:213645954-213645955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569152674	chr1:213646004-213646005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182396634	chr1:213646012-213646013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541906999	chr1:213646046-213646047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs320484	chr1:213646106-213646107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373909140	chr1:213646120-213646121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566699607	chr1:213646141-213646142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531146057	chr1:213646202-213646203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187383875	chr1:213646212-213646213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558750766	chr1:213646226-213646227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577076041	chr1:213646262-213646263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147975889	chr1:213646345-213646346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556171442	chr1:213646347-213646348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574933334	chr1:213646357-213646358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7538343	chr1:213646375-213646376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1107508	chr1:213646376-213646377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191724993	chr1:213646386-213646387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527359702	chr1:213646397-213646398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540445314	chr1:213646398-213646399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565286120	chr1:213646400-213646401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532884567	chr1:213646457-213646458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183956822	chr1:213646477-213646478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569265924	chr1:213646484-213646485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530093510	chr1:213646502-213646503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545762195	chr1:213646509-213646510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551162523	chr1:213646511-213646512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189005173	chr1:213646520-213646521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs320485	chr1:213646566-213646567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1371288	chr1:213646600-213646601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558787845	chr1:213646667-213646668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78009834	chr1:213646676-213646677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60998976	chr1:213646684-213646685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562255011	chr1:213646760-213646761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556170320	chr1:213646789-213646790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574403458	chr1:213646809-213646810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75077419	chr1:213646848-213646849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566849097	chr1:213646849-213646850	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553319614	chr1:213646858-213646859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192439167	chr1:213646903-213646904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs545488255	chr1:213646927-213646928	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565512870	chr1:213646933-213646934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148548494	chr1:213646967-213646968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544916017	chr1:213647046-213647047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142929042	chr1:213647053-213647054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530391674	chr1:213647183-213647184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548605656	chr1:213647198-213647199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183774163	chr1:213647219-213647220	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213640000-213649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:213645200-213646400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:213645400-213646400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:213645400-213646400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:213645800-213646000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:213645800-213646000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:213645800-213646600	Enhancers	HepG2	liver
8	chr1:213645800-213647200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:213645800-213649800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:213646200-213646800	Enhancers	Fetal Heart	heart
11	chr1:213646200-213647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:213646200-213647200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:213646400-213647200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:213646400-213647400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:213646400-213647400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:213646600-213647200	Weak transcription	HepG2	liver
17	chr1:213646600-213648000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:213646800-213647000	Flanking Active TSS	Fetal Heart	heart
19	chr1:213646800-213648000	Enhancers	Right Ventricle	heart
20	chr1:213647000-213647200	Enhancers	Fetal Heart	heart
21	chr1:213647200-213647400	Flanking Active TSS	Fetal Heart	heart
22	chr1:213647200-213647400	Enhancers	HepG2	liver
23	chr1:213647200-213647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:213647200-213647600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:213647200-213647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:213647200-213647600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:213647200-213647600	Enhancers	Psoas Muscle	Psoas
28	chr1:213647200-213647800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:213647200-213647800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:213647200-213647800	Enhancers	Fetal Lung	lung
31	chr1:213647200-213647800	Enhancers	Left Ventricle	heart
32	chr1:213647200-213647800	Enhancers	Ovary	ovary
33	chr1:213647200-213647800	Enhancers	Pancreas	Pancrea
34	chr1:213647200-213647800	Enhancers	Right Atrium	heart
35	chr1:213647200-213648000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:213647200-213648800	Enhancers	Fetal Muscle Leg	muscle
37	chr1:213647400-213647600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:213647400-213647800	Enhancers	Brain Anterior Caudate	brain
39	chr1:213647400-213647800	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:213647400-213647800	Flanking Active TSS	HepG2	liver
41	chr1:213647400-213650200	Enhancers	Fetal Heart	heart
42	chr1:213647800-213648000	Enhancers	HepG2	liver
43	chr1:213647800-213649200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:213648200-213648600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:213649200-213649600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:213649200-213649600	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:213649200-213650600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:213649800-213650000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:213649800-213650200	Enhancers	Fetal Kidney	kidney

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