Variant report

Variant	nsv873250
Chromosome Location	chr1:228051234-228121548
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:86)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:86 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:228089488..228090174-chr1:228134137..228134999,2	MCF-7	breast:
2	chr1:228094983..228097029-chr1:228105421..228107504,2	K562	blood:
3	chr1:228084098..228086310-chr1:228092160..228094076,2	K562	blood:
4	chr1:228064722..228067770-chr1:228071905..228075743,3	K562	blood:
5	chr1:227920443..227923158-chr1:228082125..228083921,2	K562	blood:
6	chr1:228070687..228073614-chr1:228077834..228079933,2	MCF-7	breast:
7	chr1:228080541..228083946-chr1:228085322..228089657,5	MCF-7	breast:
8	chr1:228074799..228078507-chr1:228080222..228082849,3	MCF-7	breast:
9	chr1:228099351..228102310-chr1:228112933..228115119,2	K562	blood:
10	chr1:228116517..228118419-chr1:228120867..228123021,2	K562	blood:
11	chr1:228075309..228077873-chr1:228100630..228103471,2	K562	blood:
12	chr1:228072840..228075835-chr1:228090417..228092515,2	K562	blood:
13	chr1:227912717..227914505-chr1:228107009..228109578,2	K562	blood:
14	chr1:228078454..228080145-chr1:228100152..228102991,2	MCF-7	breast:
15	chr1:228083548..228086316-chr1:228121354..228124098,2	MCF-7	breast:
16	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:
17	chr1:228085970..228089284-chr1:228089997..228094183,4	MCF-7	breast:
18	chr1:228077305..228079479-chr1:228079746..228085287,6	K562	blood:
19	chr1:227949868..227950613-chr1:228089588..228090311,2	K562	blood:
20	chr1:228073337..228075601-chr1:228082510..228084649,2	K562	blood:
21	chr1:228083548..228086316-chr1:228121354..228124098,2	MCF-7	breast:
22	chr1:228120602..228123082-chr1:228127538..228129867,2	MCF-7	breast:
23	chr1:228104214..228105732-chr1:228108237..228110826,2	MCF-7	breast:
24	chr1:228077853..228079489-chr1:228118785..228120399,2	MCF-7	breast:
25	chr1:228077739..228080091-chr1:228081013..228085287,5	K562	blood:
26	chr1:228072172..228075601-chr1:228081221..228085258,4	K562	blood:
27	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
28	chr1:228120999..228125449-chr1:228127251..228129340,4	MCF-7	breast:
29	chr1:227652761..227655179-chr1:228106807..228109006,2	MCF-7	breast:
30	chr1:228074799..228078507-chr1:228080222..228082849,3	MCF-7	breast:
31	chr1:228073337..228075601-chr1:228082510..228084649,2	K562	blood:
32	chr1:227921614..227923795-chr1:228090833..228092876,2	MCF-7	breast:
33	chr1:228072191..228073932-chr1:228079924..228082408,2	K562	blood:
34	chr1:228032607..228033237-chr1:228089693..228090487,2	MCF-7	breast:
35	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
36	chr1:228064722..228067770-chr1:228071905..228075743,3	K562	blood:
37	chr1:228083453..228085988-chr1:228087147..228089269,2	K562	blood:
38	chr1:228067787..228070478-chr1:228072728..228075273,4	K562	blood:
39	chr1:228072172..228075601-chr1:228081221..228085258,4	K562	blood:
40	chr1:228087488..228090532-chr1:228091785..228093572,3	K562	blood:
41	chr1:228064983..228067684-chr1:228073721..228075743,2	K562	blood:
42	chr1:228120545..228123784-chr1:228127076..228130229,4	K562	blood:
43	chr1:228078454..228080145-chr1:228100152..228102991,2	MCF-7	breast:
44	chr1:228087488..228090532-chr1:228091785..228093572,3	K562	blood:
45	chr1:228102507..228105005-chr1:228106646..228109537,2	MCF-7	breast:
46	chr1:228116517..228118419-chr1:228120867..228123021,2	K562	blood:
47	chr1:228050325..228052632-chr1:228054313..228055923,2	K562	blood:
48	chr1:227974971..227975949-chr1:228089646..228090423,2	MCF-7	breast:
49	chr1:228077853..228079489-chr1:228118785..228120399,2	MCF-7	breast:
50	chr1:227935783..227938114-chr1:228110328..228112224,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT9A-2	chr1:228087910-228088122	NONHSAT009951
2	lnc-WNT9A-2	chr1:228086781-228087544	l_206_chr1:228077931-228094441_testes
3	lnc-WNT9A-2	chr1:228087910-228088188	l_206_chr1:228077931-228094441_testes
4	lnc-WNT9A-2	chr1:228077932-228078091	l_206_chr1:228077931-228094441_testes
5	lnc-WNT9A-2	chr1:228094336-228094441	l_206_chr1:228077931-228094441_testes
6	lnc-WNT9A-2	chr1:228077920-228078091	NONHSAT009951

No data

Variant related genes	Relation type
ENSG00000264483	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000081692	chromatin interactions

Extended variants
information (count: 2892 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2892 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2313202	chr1:228051234-228051235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199941111	chr1:228051253-228051254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549735706	chr1:228051371-228051372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190938020	chr1:228051377-228051378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183758157	chr1:228051385-228051386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532147815	chr1:228051388-228051389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547085853	chr1:228051393-228051394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565339457	chr1:228051408-228051409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12735256	chr1:228051432-228051433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549941885	chr1:228051487-228051488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555657641	chr1:228051497-228051498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73102873	chr1:228051547-228051548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10916231	chr1:228051648-228051649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556516920	chr1:228051745-228051746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147687344	chr1:228051750-228051751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73102875	chr1:228051795-228051796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114434194	chr1:228051819-228051820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547404009	chr1:228051839-228051840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375910022	chr1:228051946-228051947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57047840	chr1:228052027-228052028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543012943	chr1:228052123-228052124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111474626	chr1:228052189-228052190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529545183	chr1:228052214-228052215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76463958	chr1:228052237-228052238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397799661	chr1:228052246-228052247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531542049	chr1:228052247-228052248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543691706	chr1:228052249-228052250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535512893	chr1:228052287-228052288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75156669	chr1:228052336-228052337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188682362	chr1:228052347-228052348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113650695	chr1:228052434-228052435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373509436	chr1:228052511-228052512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376964086	chr1:228052517-228052518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551886406	chr1:228052520-228052521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547810340	chr1:228052551-228052552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375155114	chr1:228052588-228052589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192827065	chr1:228052608-228052609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185254059	chr1:228052615-228052616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187342047	chr1:228052622-228052623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539199112	chr1:228052639-228052640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554327970	chr1:228052685-228052686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138678366	chr1:228052750-228052751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191706485	chr1:228052790-228052791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554706352	chr1:228052792-228052793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183922311	chr1:228052818-228052819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533934956	chr1:228052858-228052859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188153385	chr1:228052861-228052862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565145870	chr1:228052924-228052925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576644496	chr1:228052954-228052955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571482147	chr1:228053019-228053020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228046600-228057600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:228052800-228053200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr1:228053200-228054000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:228055200-228055400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:228055800-228056000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:228055800-228056400	Enhancers	Placenta	Placenta
7	chr1:228056000-228057000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:228056400-228056800	Weak transcription	Placenta	Placenta
9	chr1:228056800-228057400	Enhancers	Placenta	Placenta
10	chr1:228056800-228057600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:228057000-228057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:228057000-228057200	Enhancers	Dnd41	blood
13	chr1:228057000-228057600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:228057000-228057600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:228057000-228057600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:228057000-228057600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:228057000-228058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:228057000-228058000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:228057000-228058000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:228057000-228058400	Enhancers	HSMM	muscle
21	chr1:228057000-228058800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:228057000-228059000	Enhancers	Thymus	Thymus
23	chr1:228057000-228060000	Enhancers	Primary T cells from cord blood	blood
24	chr1:228057000-228060000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:228057000-228060000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:228057000-228060400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:228057000-228060400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:228057000-228060400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:228057000-228060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:228057000-228060800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:228057200-228057400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:228057200-228057400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:228057200-228057600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:228057200-228057600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:228057200-228057600	Enhancers	Esophagus	oesophagus
36	chr1:228057200-228057600	Enhancers	HSMMtube	muscle
37	chr1:228057200-228057800	Flanking Active TSS	Dnd41	blood
38	chr1:228057200-228058000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:228057200-228058000	Enhancers	Spleen	Spleen
40	chr1:228057200-228058200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:228057200-228058400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:228057200-228058400	Enhancers	Fetal Thymus	thymus
43	chr1:228057200-228058400	Enhancers	HMEC	breast
44	chr1:228057200-228058400	Enhancers	NHDF-Ad	bronchial
45	chr1:228057200-228059200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:228057200-228059800	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:228057400-228058000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:228057400-228058000	Active TSS	Gastric	stomach
49	chr1:228057400-228058200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:228057600-228057800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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