Variant report

Variant	nsv874200
Chromosome Location	chr2:58163178-58262016
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:49)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:58190476..58193185-chr2:58195225..58197581,2	K562	blood:
2	chr2:58213221..58214916-chr2:58272774..58274711,2	MCF-7	breast:
3	chr2:58180313..58182167-chr2:58188736..58190894,2	K562	blood:
4	chr2:58250269..58252783-chr2:58272137..58273810,2	K562	blood:
5	chr2:58252507..58254026-chr2:58272386..58274473,2	MCF-7	breast:
6	chr2:58199993..58202992-chr5:145207291..145209292,2	K562	blood:
7	chr2:58221093..58222729-chr2:58225692..58227656,2	K562	blood:
8	chr2:58238094..58240587-chr2:58270384..58272042,2	MCF-7	breast:
9	chr2:58255435..58257369-chr2:58260109..58262551,2	K562	blood:
10	chr2:58247203..58248924-chr2:58262338..58265214,2	MCF-7	breast:
11	chr2:58240285..58243265-chr8:43094257..43096723,2	K562	blood:
12	chr2:58187195..58189325-chr2:58189477..58191686,2	K562	blood:
13	chr2:58247168..58251041-chr2:58272762..58276217,5	K562	blood:
14	chr2:58217212..58219240-chr2:58272255..58275119,3	MCF-7	breast:
15	chr2:58188921..58191161-chr2:58194291..58197130,2	MCF-7	breast:
16	chr2:58202481..58205447-chr2:58273853..58275845,2	K562	blood:
17	chr2:58208443..58211006-chr2:58214388..58216999,2	MCF-7	breast:
18	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:
19	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:
20	chr2:58195024..58197060-chr2:58197632..58200151,2	K562	blood:
21	chr2:58252749..58254279-chr2:58273820..58275981,2	K562	blood:
22	chr2:58255435..58257369-chr2:58260109..58262551,2	K562	blood:
23	chr2:58250871..58252381-chr2:58256903..58259495,2	MCF-7	breast:
24	chr2:58241265..58242265-chr8:43096231..43096912,2	MCF-7	breast:
25	chr2:58243274..58245439-chr2:58246837..58248682,2	K562	blood:
26	chr2:58208443..58211006-chr2:58214388..58216999,2	MCF-7	breast:
27	chr2:58258986..58262667-chr2:58264897..58267784,3	K562	blood:
28	chr2:58235603..58239393-chr2:58272093..58275370,6	MCF-7	breast:
29	chr2:58256916..58258613-chr2:58271461..58275000,3	MCF-7	breast:
30	chr2:58190476..58193185-chr2:58195225..58197581,2	K562	blood:
31	chr2:58187195..58189325-chr2:58189477..58191686,2	K562	blood:
32	chr2:58221093..58222729-chr2:58225692..58227656,2	K562	blood:
33	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
34	chr2:58195024..58197060-chr2:58197632..58200151,2	K562	blood:
35	chr2:58250871..58252381-chr2:58256903..58259495,2	MCF-7	breast:
36	chr2:58249060..58252224-chr2:58272620..58275638,4	MCF-7	breast:
37	chr2:58240418..58242396-chr2:58273310..58275258,2	MCF-7	breast:
38	chr2:58241785..58242285-chr5:25238065..25239045,2	MCF-7	breast:
39	chr2:58225905..58228686-chr2:58272186..58273740,2	MCF-7	breast:
40	chr2:58251668..58253747-chr2:58277499..58279387,2	MCF-7	breast:
41	chr2:58188921..58191161-chr2:58194291..58197130,2	MCF-7	breast:
42	chr2:58230955..58233450-chr2:58273896..58276071,2	MCF-7	breast:
43	chr2:58166604..58168683-chr2:58171240..58173466,2	K562	blood:
44	chr2:58166604..58168683-chr2:58171240..58173466,2	K562	blood:
45	chr2:58257859..58260468-chr2:58264282..58266737,2	MCF-7	breast:
46	chr2:58243274..58245439-chr2:58246837..58248682,2	K562	blood:
47	chr2:58258901..58260862-chr2:58271685..58273683,2	K562	blood:
48	chr2:58180313..58182167-chr2:58188736..58190894,2	K562	blood:
49	chr2:58219444..58221861-chr2:58272134..58274899,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-1	chr2:58243792-58245214	NONHSAT070845
2	lnc-FANCL-1	chr2:58236367-58240741	ENSG00000250445
3	lnc-CCDC85A-6	chr2:58245151-58245221	NONHSAT070843
4	lnc-CCDC85A-6	chr2:58252800-58252905	NONHSAT070843
5	lnc-CCDC85A-6	chr2:58260362-58260798	NONHSAT070843
6	lnc-CCDC85A-6	chr2:58255433-58255533	NONHSAT070843
7	lnc-CCDC85A-5	chr2:58240644-58240889	expRegAs_chr2_4318_+
8	lnc-FANCL-1	chr2:58236367-58240741	NONHSAT070845
9	lnc-FANCL-1	chr2:58243792-58245216	ENSG00000250445
10	lnc-CCDC85A-6	chr2:58255433-58255533	NONHSAT070844
11	lnc-CCDC85A-6	chr2:58260362-58260462	NONHSAT070844
12	lnc-CCDC85A-6	chr2:58252800-58252905	NONHSAT070844
13	lnc-CCDC85A-6	chr2:58253879-58253996	NONHSAT070843

No data

Variant related genes	Relation type
ENSG00000028116	chromatin interactions
PNN	miRNA target sites

Extended variants
information (count: 2691 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2691 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371853787	chr2:58163217-58163218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182709240	chr2:58163225-58163226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555231006	chr2:58163341-58163342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561832649	chr2:58163344-58163345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575123881	chr2:58163349-58163350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376834029	chr2:58163359-58163360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544245064	chr2:58163369-58163370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373622852	chr2:58163445-58163446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545505964	chr2:58163447-58163448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557518365	chr2:58163467-58163468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186905266	chr2:58163479-58163480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543290025	chr2:58163499-58163500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368025815	chr2:58163525-58163526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191720938	chr2:58163595-58163596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150172810	chr2:58163598-58163599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184313140	chr2:58163635-58163636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200492675	chr2:58163653-58163654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201120313	chr2:58163658-58163659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551444069	chr2:58163661-58163662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11692641	chr2:58163666-58163667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539088139	chr2:58163667-58163668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569454977	chr2:58163674-58163675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530618751	chr2:58163735-58163736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1356543	chr2:58163739-58163740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189059302	chr2:58163743-58163744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560619132	chr2:58163746-58163747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72947147	chr2:58163767-58163768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534934505	chr2:58163897-58163898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553064585	chr2:58163927-58163928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139534812	chr2:58163954-58163955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577271705	chr2:58163974-58163975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193016288	chr2:58164016-58164017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12105759	chr2:58164019-58164020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149492893	chr2:58164032-58164033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12105760	chr2:58164042-58164043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575811377	chr2:58164058-58164059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536800839	chr2:58164079-58164080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555214476	chr2:58164108-58164109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185197007	chr2:58164109-58164110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77013411	chr2:58164122-58164123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114175979	chr2:58164124-58164125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577559808	chr2:58164136-58164137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544653530	chr2:58164138-58164139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561292580	chr2:58164139-58164140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563000596	chr2:58164144-58164145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530532167	chr2:58164205-58164206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549198359	chr2:58164209-58164210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2678889	chr2:58164223-58164224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190486520	chr2:58164299-58164300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112732485	chr2:58164371-58164372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58163200-58163400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:58163400-58164400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:58164400-58164800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:58164800-58169600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:58168800-58169200	Enhancers	Brain Substantia Nigra	brain
6	chr2:58168800-58169800	Enhancers	Brain Hippocampus Middle	brain
7	chr2:58168800-58169800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:58169000-58169800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:58169000-58170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:58169200-58169400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:58169400-58169600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:58169400-58169800	Enhancers	Brain Substantia Nigra	brain
13	chr2:58169600-58170000	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:58169600-58170400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:58169800-58170600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:58169800-58170800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:58169800-58170800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:58170000-58171400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:58170200-58171000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:58170200-58171000	Enhancers	Adipose Nuclei	Adipose
21	chr2:58170200-58171000	Enhancers	A549	lung
22	chr2:58170200-58171200	Enhancers	Fetal Intestine Small	intestine
23	chr2:58170200-58171400	Enhancers	Hela-S3	cervix
24	chr2:58170400-58171400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:58170600-58171000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:58170600-58171000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:58170600-58171000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:58170600-58171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:58170800-58171000	Enhancers	Brain Substantia Nigra	brain
30	chr2:58170800-58171400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:58170800-58172000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:58171000-58171200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:58172000-58172200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:58172000-58172400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:58179800-58180400	Enhancers	GM12878-XiMat	blood
36	chr2:58180000-58180400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:58186600-58187200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:58186800-58187200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:58187600-58188200	Enhancers	Adipose Nuclei	Adipose
40	chr2:58189800-58190400	Enhancers	K562	blood
41	chr2:58190000-58190400	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:58192200-58193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:58193000-58193600	Enhancers	A549	lung
44	chr2:58193200-58193400	Enhancers	Brain Anterior Caudate	brain
45	chr2:58194000-58196200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:58194600-58195800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:58194600-58195800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:58194800-58195000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:58194800-58195000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:58194800-58195800	Enhancers	HUES64 Cell Line	embryonic stem cell

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