Variant report

Variant	nsv873171
Chromosome Location	chr1:215825167-215925167
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215837544..215839141-chr1:215848325..215850444,2	K562	blood:
2	chr1:215845675..215846196-chr1:215883791..215884304,2	MCF-7	breast:
3	chr1:215844080..215847037-chr1:215848218..215850528,2	K562	blood:
4	chr1:215835785..215837788-chr1:215841703..215843695,2	K562	blood:
5	chr1:215742124..215744108-chr1:215859791..215861523,2	K562	blood:
6	chr1:215890247..215892137-chr1:215899124..215901276,2	MCF-7	breast:
7	chr1:215896976..215899572-chr1:215900130..215902323,2	MCF-7	breast:
8	chr1:215819736..215823244-chr1:215824561..215828169,4	K562	blood:
9	chr1:215844080..215847037-chr1:215848218..215850528,2	K562	blood:
10	chr1:215919175..215921011-chr1:215923507..215925193,2	K562	blood:
11	chr1:215852361..215855087-chr1:215863901..215865642,2	MCF-7	breast:
12	chr1:215883369..215884389-chr1:216165659..216166604,3	MCF-7	breast:
13	chr1:215846715..215849694-chr1:215853458..215855866,2	K562	blood:
14	chr1:215878674..215880507-chr1:215885642..215887542,2	MCF-7	breast:
15	chr1:215846715..215849694-chr1:215853458..215855866,2	K562	blood:
16	chr1:215883862..215884424-chr1:216061346..216062151,2	MCF-7	breast:
17	chr1:215839231..215842034-chr1:215843499..215845639,3	K562	blood:
18	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:
19	chr1:215883823..215884559-chr1:216292963..216293650,2	MCF-7	breast:
20	chr1:215816772..215818915-chr1:215831158..215833627,2	K562	blood:
21	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:
22	chr1:215857076..215858838-chr1:215859681..215861517,2	K562	blood:
23	chr1:215883379..215884338-chr1:216366981..216368007,3	MCF-7	breast:
24	chr1:215821586..215823244-chr1:215826005..215828169,2	K562	blood:
25	chr1:215910354..215912136-chr1:216136601..216138157,2	K562	blood:
26	chr1:215830944..215832595-chr1:215836644..215839502,2	K562	blood:
27	chr1:215835785..215837788-chr1:215841703..215843695,2	K562	blood:
28	chr1:215837544..215839141-chr1:215848325..215850444,2	K562	blood:
29	chr1:215852361..215855087-chr1:215863901..215865642,2	MCF-7	breast:
30	chr1:215830944..215832595-chr1:215836644..215839502,2	K562	blood:
31	chr1:215845675..215846196-chr1:215883791..215884304,2	MCF-7	breast:
32	chr1:215919175..215921011-chr1:215923507..215925193,2	K562	blood:
33	chr1:215896976..215899572-chr1:215900130..215902323,2	MCF-7	breast:
34	chr1:215857076..215858838-chr1:215859681..215861517,2	K562	blood:
35	chr1:215890247..215892137-chr1:215899124..215901276,2	MCF-7	breast:
36	chr1:215878674..215880507-chr1:215885642..215887542,2	MCF-7	breast:
37	chr1:215839231..215842034-chr1:215843499..215845639,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236292	chromatin interactions

Extended variants
information (count: 1855 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2677112	chr1:215825167-215825168	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180690999	chr1:215825181-215825182	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555059042	chr1:215825189-215825190	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529781981	chr1:215825210-215825211	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574987329	chr1:215825213-215825214	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369103054	chr1:215825221-215825222	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186142064	chr1:215825237-215825238	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75748209	chr1:215825293-215825294	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536945732	chr1:215825324-215825325	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532677091	chr1:215825339-215825340	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372527881	chr1:215825382-215825383	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141927409	chr1:215825387-215825388	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562933696	chr1:215825393-215825394	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563141298	chr1:215825461-215825462	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531895811	chr1:215825483-215825484	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147120119	chr1:215825500-215825501	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566994525	chr1:215825505-215825506	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529755121	chr1:215825526-215825527	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370474048	chr1:215825622-215825623	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546174520	chr1:215825693-215825694	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76364641	chr1:215825719-215825720	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190601795	chr1:215825720-215825721	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538552626	chr1:215825751-215825752	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573412468	chr1:215825758-215825759	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552611439	chr1:215825822-215825823	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114863633	chr1:215825848-215825849	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569066703	chr1:215825859-215825860	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72739270	chr1:215825866-215825867	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182270768	chr1:215825890-215825891	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138513340	chr1:215825895-215825896	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35151046	chr1:215825958-215825959	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555010364	chr1:215825988-215825989	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549216916	chr1:215826067-215826068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185793606	chr1:215826068-215826069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377084817	chr1:215826074-215826075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554207579	chr1:215826116-215826117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370137679	chr1:215826153-215826154	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577211122	chr1:215826154-215826155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540631856	chr1:215826156-215826157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563153141	chr1:215826198-215826199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531933795	chr1:215826277-215826278	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541985853	chr1:215826330-215826331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528771756	chr1:215826331-215826332	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375626756	chr1:215826338-215826339	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529720496	chr1:215826372-215826373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546335125	chr1:215826391-215826392	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190394871	chr1:215826404-215826405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182946172	chr1:215826420-215826421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532091919	chr1:215826452-215826453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551887341	chr1:215826469-215826470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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	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
Basal cell lymphoma	17170743	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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Ewing''s sarcoma	19144156	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215823200-215825200	Flanking Active TSS	Liver	Liver
2	chr1:215823200-215825400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:215823200-215826600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:215823600-215825400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:215824200-215825200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:215824200-215825600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:215824200-215827200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:215824600-215825600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:215824800-215825200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:215824800-215826200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:215825000-215825400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:215825000-215825400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:215825000-215825400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:215825200-215825400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:215825200-215825600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:215825200-215827200	Enhancers	Liver	Liver
17	chr1:215825400-215825600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:215825400-215825800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:215825400-215826000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:215825400-215826200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:215825400-215826800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:215825600-215826000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:215825600-215826000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:215825600-215826200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:215825600-215826400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:215825600-215826400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:215825800-215827400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:215826000-215826200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:215826000-215827000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:215826200-215827200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:215826200-215827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:215826400-215827400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:215827200-215830600	Weak transcription	Liver	Liver
34	chr1:215830600-215831200	Enhancers	Liver	Liver
35	chr1:215831200-215832200	Weak transcription	Liver	Liver
36	chr1:215832200-215832400	Enhancers	Liver	Liver
37	chr1:215832400-215832800	Weak transcription	Liver	Liver
38	chr1:215832800-215835200	Enhancers	Liver	Liver
39	chr1:215833000-215834800	Enhancers	HepG2	liver
40	chr1:215834200-215834800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:215836000-215836400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:215836600-215837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:215836800-215837000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:215836800-215837400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:215837000-215841200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:215837000-215843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:215837200-215840200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:215837400-215842600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:215838000-215839000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:215838400-215839000	Enhancers	H1 Cell Line	embryonic stem cell

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