Variant report

Variant	nsv873169
Chromosome Location	chr1:215264486-215453286
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:215293174..215295658-chr1:215298040..215300883,2	K562	blood:
2	chr1:215354644..215355511-chr1:215690679..215691509,5	MCF-7	breast:
3	chr1:215285008..215287414-chr1:215293521..215295333,2	MCF-7	breast:
4	chr1:215290334..215292813-chr1:215297263..215299579,2	K562	blood:
5	chr1:215357611..215359766-chr1:215363788..215366178,2	K562	blood:
6	chr1:215398980..215400593-chr1:215403515..215406240,2	MCF-7	breast:
7	chr1:215280557..215283652-chr1:215283955..215286310,3	MCF-7	breast:
8	chr1:215425382..215427460-chr1:215429504..215431007,2	MCF-7	breast:
9	chr1:214831866..214833553-chr1:215319107..215319955,5	MCF-7	breast:
10	chr1:215451191..215452899-chr1:215457421..215459243,2	K562	blood:
11	chr1:215259190..215261920-chr1:215262011..215264888,2	MCF-7	breast:
12	chr1:214832044..214832744-chr1:215319419..215320008,2	MCF-7	breast:
13	chr1:215409558..215413015-chr1:215413539..215417993,3	MCF-7	breast:
14	chr1:215125696..215126808-chr1:215319275..215320710,4	MCF-7	breast:
15	chr1:214981924..214982642-chr1:215319314..215319817,2	MCF-7	breast:
16	chr1:215398980..215400593-chr1:215403515..215406240,2	MCF-7	breast:
17	chr1:215433758..215436228-chr1:215449645..215451805,2	MCF-7	breast:
18	chr1:215291146..215292906-chr1:215309606..215312373,2	MCF-7	breast:
19	chr1:214975717..214977298-chr1:215304558..215307243,2	MCF-7	breast:
20	chr1:215409558..215413015-chr1:215413539..215417993,3	MCF-7	breast:
21	chr1:215450051..215452681-chr1:215452768..215455001,4	MCF-7	breast:
22	chr1:215425382..215427460-chr1:215429504..215431007,2	MCF-7	breast:
23	chr1:215370070..215372970-chr1:215440375..215442931,2	MCF-7	breast:
24	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:
25	chr1:215329275..215331394-chr1:215332099..215334875,2	K562	blood:
26	chr1:215280557..215283652-chr1:215283955..215286310,3	MCF-7	breast:
27	chr1:215450051..215452681-chr1:215452768..215455001,4	MCF-7	breast:
28	chr1:215370070..215372970-chr1:215440375..215442931,2	MCF-7	breast:
29	chr1:215354699..215355750-chr1:215690763..215692016,3	MCF-7	breast:
30	chr1:215302064..215304065-chr1:215309490..215312197,2	K562	blood:
31	chr1:215357611..215359766-chr1:215363788..215366178,2	K562	blood:
32	chr1:214981501..214983168-chr1:215319349..215320262,5	MCF-7	breast:
33	chr1:215329275..215331394-chr1:215332099..215334875,2	K562	blood:
34	chr1:215302064..215304065-chr1:215309490..215312197,2	K562	blood:
35	chr1:215438804..215441774-chr1:215443283..215445065,2	MCF-7	breast:
36	chr1:214833968..214834951-chr1:215319332..215320214,6	MCF-7	breast:
37	chr1:215433758..215436228-chr1:215449645..215451805,2	MCF-7	breast:
38	chr1:215312342..215314985-chr1:215316915..215319067,2	K562	blood:
39	chr1:215291146..215292906-chr1:215309606..215312373,2	MCF-7	breast:
40	chr1:215290334..215292813-chr1:215297263..215299579,2	K562	blood:
41	chr1:215396676..215399240-chr3:64135650..64138383,2	MCF-7	breast:
42	chr1:215249267..215251952-chr1:215286200..215288230,2	MCF-7	breast:
43	chr1:214834159..214834828-chr1:215319348..215320253,3	MCF-7	breast:
44	chr1:215438804..215441774-chr1:215443283..215445065,2	MCF-7	breast:
45	chr1:215285008..215287414-chr1:215293521..215295333,2	MCF-7	breast:
46	chr1:215293174..215295658-chr1:215298040..215300883,2	K562	blood:
47	chr1:215312342..215314985-chr1:215316915..215319067,2	K562	blood:
48	chr1:215361168..215363733-chr1:215415498..215417578,2	MCF-7	breast:
49	chr1:215361168..215363733-chr1:215415498..215417578,2	MCF-7	breast:
50	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KCNK2	hsa-miR-124-3p	chr1:215408961-215408968
2	KCNK2	hsa-miR-124-3p	chr1:215342585-215342603
3	KCNK2	hsa-miR-124-3p	chr1:215408947-215408968

Extended variants
information (count: 6044 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6044 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12133857	chr1:215264486-215264487	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547646440	chr1:215264503-215264504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535563316	chr1:215264504-215264505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555798053	chr1:215264538-215264539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145279428	chr1:215264552-215264553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564738099	chr1:215264580-215264581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74143654	chr1:215264592-215264593	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558054966	chr1:215264604-215264605	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578260697	chr1:215264634-215264635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189394378	chr1:215264714-215264715	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565972217	chr1:215264763-215264764	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149136698	chr1:215264769-215264770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533691366	chr1:215264829-215264830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547195590	chr1:215264831-215264832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370151381	chr1:215264858-215264859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116822598	chr1:215264883-215264884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114086362	chr1:215264893-215264894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541259017	chr1:215264964-215264965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563934633	chr1:215264967-215264968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533059504	chr1:215264985-215264986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181406597	chr1:215265033-215265034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563358345	chr1:215265044-215265045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139041832	chr1:215265052-215265053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142853280	chr1:215265062-215265063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113978590	chr1:215265102-215265103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185819127	chr1:215265133-215265134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147015242	chr1:215265205-215265206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376184188	chr1:215265231-215265232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552000007	chr1:215265239-215265240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376157650	chr1:215265279-215265280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571824913	chr1:215265291-215265292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560773300	chr1:215265331-215265332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537752512	chr1:215265341-215265342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377454213	chr1:215265362-215265363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148028088	chr1:215265363-215265364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369144376	chr1:215265405-215265406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535465984	chr1:215265438-215265439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34339024	chr1:215265449-215265450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371048327	chr1:215265489-215265490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555057665	chr1:215265529-215265530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141751652	chr1:215265548-215265549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189549598	chr1:215265570-215265571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563948617	chr1:215265605-215265606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7547655	chr1:215265676-215265677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs543335797	chr1:215265697-215265698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563271929	chr1:215265709-215265710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529160869	chr1:215265716-215265717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180948322	chr1:215265769-215265770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150533658	chr1:215265774-215265775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186192497	chr1:215265799-215265800	Weak transcription Strong transcription	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:215258400-215267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:215260200-215265600	Weak transcription	Gastric	stomach
6	chr1:215261400-215265200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:215261600-215266000	Weak transcription	NHLF	lung
8	chr1:215261600-215266600	Strong transcription	Osteobl	bone
9	chr1:215261800-215264600	Weak transcription	Fetal Brain Female	brain
10	chr1:215262000-215266000	Strong transcription	NHDF-Ad	bronchial
11	chr1:215262000-215267800	Weak transcription	Fetal Brain Male	brain
12	chr1:215262400-215265000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:215263000-215265400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:215264600-215264800	Genic enhancers	Fetal Brain Female	brain
15	chr1:215264800-215266200	Strong transcription	Fetal Brain Female	brain
16	chr1:215265000-215265400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:215265000-215268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:215265400-215265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:215265400-215280800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:215265800-215266400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:215266000-215266600	Genic enhancers	NHDF-Ad	bronchial
22	chr1:215266200-215266400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:215266200-215269400	Weak transcription	Fetal Brain Female	brain
24	chr1:215266400-215267400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:215266600-215268000	Weak transcription	Osteobl	bone
26	chr1:215266600-215276000	Weak transcription	NHDF-Ad	bronchial
27	chr1:215267400-215267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:215267400-215268000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:215267800-215268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:215267800-215269600	Enhancers	Fetal Brain Male	brain
31	chr1:215268000-215269400	Strong transcription	Osteobl	bone
32	chr1:215268000-215270200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:215268600-215269800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:215268600-215270600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:215269400-215270200	Genic enhancers	Fetal Brain Female	brain
36	chr1:215269400-215273200	Weak transcription	Osteobl	bone
37	chr1:215269600-215277600	Weak transcription	Fetal Brain Male	brain
38	chr1:215269800-215276200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:215270200-215270400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:215270200-215271200	Weak transcription	Fetal Brain Female	brain
41	chr1:215270400-215271200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:215270600-215277200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:215271200-215271800	Enhancers	Fetal Brain Female	brain
44	chr1:215273200-215275200	Strong transcription	Osteobl	bone
45	chr1:215275200-215276600	Weak transcription	Osteobl	bone
46	chr1:215276000-215276600	Enhancers	Brain Germinal Matrix	brain
47	chr1:215276000-215276600	Genic enhancers	NHDF-Ad	bronchial
48	chr1:215276200-215276400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:215276400-215276800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:215276600-215276800	Weak transcription	NHDF-Ad	bronchial

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