Variant report

Variant	nsv874152
Chromosome Location	chr2:55023600-55060479
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:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55051760..55053947-chr2:55063196..55065513,2	K562	blood:
2	chr2:55042975..55046110-chr2:55047288..55049985,3	K562	blood:
3	chr2:55030699..55032489-chr2:55035995..55037701,2	K562	blood:
4	chr2:55050860..55053481-chr2:55056910..55059728,4	K562	blood:
5	chr2:54075898..54077445-chr2:55058501..55060039,2	K562	blood:
6	chr2:55043190..55047083-chr2:55047288..55051839,4	K562	blood:
7	chr2:55054994..55056963-chr2:55058842..55061555,2	K562	blood:
8	chr2:55042975..55046110-chr2:55047288..55049985,3	K562	blood:
9	chr2:55043190..55047083-chr2:55047288..55051839,4	K562	blood:
10	chr2:54956388..54959275-chr2:55046945..55049769,2	MCF-7	breast:
11	chr2:55043075..55045749-chr2:55057343..55058927,2	K562	blood:
12	chr2:55030989..55033813-chr2:55035805..55037701,2	K562	blood:
13	chr2:55030989..55033813-chr2:55035805..55037701,2	K562	blood:
14	chr2:55058953..55061884-chr2:55063493..55065215,2	K562	blood:
15	chr2:55030699..55032489-chr2:55035995..55037701,2	K562	blood:
16	chr2:55050860..55053564-chr2:55056333..55059728,3	K562	blood:
17	chr17:59492061..59493575-chr2:55052880..55054380,2	MCF-7	breast:
18	chr19:3989800..3990365-chr2:55028993..55029496,2	MCF-7	breast:
19	chr2:55043075..55045749-chr2:55057343..55058927,2	K562	blood:
20	chr2:55054994..55056963-chr2:55058842..55061555,2	K562	blood:
21	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
22	chr2:55050860..55053481-chr2:55056910..55059728,4	K562	blood:
23	chr2:55050860..55053564-chr2:55056333..55059728,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTN4-4	chr2:55057725-55058202	expReg_chr2_4079_-

No data

Variant related genes	Relation type
ENSG00000265452	chromatin interactions

Extended variants
information (count: 1982 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17046344	chr2:55023600-55023601	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs529436290	chr2:55023613-55023614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139445612	chr2:55023629-55023630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200696381	chr2:55023640-55023641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115055504	chr2:55023657-55023658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191267193	chr2:55023661-55023662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537885946	chr2:55023697-55023698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551766287	chr2:55023705-55023706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540075049	chr2:55023723-55023724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571521646	chr2:55023741-55023742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146771518	chr2:55023755-55023756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553268007	chr2:55023761-55023762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140405076	chr2:55023768-55023769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73935220	chr2:55023807-55023808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535644202	chr2:55023812-55023813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78173929	chr2:55023813-55023814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77906075	chr2:55023833-55023834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572330384	chr2:55023841-55023842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548582250	chr2:55023866-55023867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145407012	chr2:55023867-55023868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569173378	chr2:55023882-55023883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148037718	chr2:55023903-55023904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75394599	chr2:55023904-55023905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540564763	chr2:55023915-55023916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560408690	chr2:55023927-55023928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568398688	chr2:55023936-55023937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549150574	chr2:55023986-55023987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184970758	chr2:55024008-55024009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190267674	chr2:55024011-55024012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs354946	chr2:55024023-55024024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533933164	chr2:55024027-55024028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546964752	chr2:55024061-55024062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566752855	chr2:55024070-55024071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193231662	chr2:55024082-55024083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555616348	chr2:55024114-55024115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185303381	chr2:55024115-55024116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150226271	chr2:55024116-55024117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34470782	chr2:55024130-55024131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35952938	chr2:55024132-55024133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35507604	chr2:55024134-55024135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557529397	chr2:55024143-55024144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577612777	chr2:55024185-55024186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72917550	chr2:55024186-55024187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190193763	chr2:55024219-55024220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540437264	chr2:55024232-55024233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574009852	chr2:55024256-55024257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34682248	chr2:55024299-55024300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34524275	chr2:55024302-55024303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553560592	chr2:55024306-55024307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372140082	chr2:55024307-55024308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Williams Syndrome	20824207	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
Melanoma	20877625	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55021800-55024800	Weak transcription	HSMMtube	muscle
2	chr2:55022200-55031200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:55028400-55029200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55028400-55029200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:55028400-55029200	Enhancers	HepG2	liver
6	chr2:55028400-55029600	Enhancers	Brain Germinal Matrix	brain
7	chr2:55028600-55029200	Enhancers	Brain Substantia Nigra	brain
8	chr2:55029600-55030000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:55030000-55032000	Enhancers	Brain Germinal Matrix	brain
10	chr2:55030200-55031800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:55030200-55031800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:55030400-55030600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:55030400-55031600	Enhancers	Fetal Brain Female	brain
14	chr2:55030400-55032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55030800-55031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:55031000-55031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:55031000-55031600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:55031000-55032000	Enhancers	NHDF-Ad	bronchial
19	chr2:55031200-55031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:55031200-55031400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:55031200-55031600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:55031200-55031800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:55031400-55031800	Enhancers	NHEK	skin
24	chr2:55031400-55032000	Enhancers	Dnd41	blood
25	chr2:55031600-55032200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:55031800-55036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:55031800-55036600	Weak transcription	NHEK	skin
28	chr2:55032000-55035400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:55035200-55035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:55035200-55035400	Enhancers	Psoas Muscle	Psoas
31	chr2:55035200-55035600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:55035200-55035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:55035200-55035800	Enhancers	NHDF-Ad	bronchial
34	chr2:55035200-55037200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:55035200-55037200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:55035200-55038000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:55035400-55035600	Enhancers	HSMMtube	muscle
38	chr2:55035400-55036400	Weak transcription	Psoas Muscle	Psoas
39	chr2:55035400-55037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:55035400-55038000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:55035600-55036600	Weak transcription	HSMMtube	muscle
42	chr2:55035600-55036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:55035800-55036200	Weak transcription	NHDF-Ad	bronchial
44	chr2:55035800-55037000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:55036200-55037200	Enhancers	NHDF-Ad	bronchial
46	chr2:55036400-55036600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:55036400-55036800	Enhancers	Psoas Muscle	Psoas
48	chr2:55036600-55037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:55036600-55037200	Enhancers	HSMM	muscle
50	chr2:55036600-55037600	Enhancers	HMEC	breast

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