Variant report

Variant	nsv997674
Chromosome Location	chr2:148862630-148995570
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:30)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
2	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
3	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
4	chr2:148976677..148978352-chr2:149006227..149008013,2	MCF-7	breast:
5	chr2:148869849..148872323-chr2:148885274..148887437,2	MCF-7	breast:
6	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
7	chr2:148960078..148961760-chr2:148963590..148966098,2	MCF-7	breast:
8	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
9	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
10	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:
11	chr2:148695045..148696010-chr2:148958677..148959570,5	K562	blood:
12	chr2:148964117..148966027-chr2:148967186..148969154,2	MCF-7	breast:
13	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:
14	chr2:148869849..148872323-chr2:148885274..148887437,2	MCF-7	breast:
15	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
16	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
17	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
18	chr2:148960078..148961760-chr2:148963590..148966098,2	MCF-7	breast:
19	chr2:148777816..148780257-chr2:148961269..148962957,2	MCF-7	breast:
20	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
21	chr2:148967081..148967666-chr2:149266757..149267493,2	MCF-7	breast:
22	chr2:148951330..148953430-chr2:148956133..148959129,2	K562	blood:
23	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
24	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
25	chr2:148994771..148998300-chr2:149002088..149006299,3	K562	blood:
26	chr2:148951330..148953430-chr2:148956133..148959129,2	K562	blood:
27	chr2:148746466..148747928-chr2:148959011..148960040,7	MCF-7	breast:
28	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
29	chr2:148925257..148925927-chr2:149266799..149267551,3	MCF-7	breast:
30	chr2:148964117..148966027-chr2:148967186..148969154,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074875
2	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074872
3	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074874
4	lnc-MBD5-1	chr2:148977516-148977602	NONHSAT074878
5	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074878
6	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074871
7	lnc-MBD5-1	chr2:148990814-148990964	NONHSAT074878
8	lnc-MBD5-1	chr2:148990814-148990964	NONHSAT074872
9	lnc-MBD5-1	chr2:148990814-148990896	NONHSAT074874

No data

Variant related genes	Relation type
ENSG00000115947	chromatin interactions
ENSG00000204406	chromatin interactions

Extended variants
information (count: 4482 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4482 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150056351	chr2:148862632-148862633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35555690	chr2:148862663-148862664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78779884	chr2:148862723-148862724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149129791	chr2:148862734-148862735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535194956	chr2:148862758-148862759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181122039	chr2:148862777-148862778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59445751	chr2:148862791-148862792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397986188	chr2:148862805-148862806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564549389	chr2:148862825-148862826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554709444	chr2:148862847-148862848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566760121	chr2:148862944-148862945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186556962	chr2:148862952-148862953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77738366	chr2:148863002-148863003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371895173	chr2:148863034-148863035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77503002	chr2:148863040-148863041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10439198	chr2:148863083-148863084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs17299559	chr2:148863116-148863117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139095785	chr2:148863132-148863133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576396367	chr2:148863166-148863167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574811334	chr2:148863194-148863195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142180508	chr2:148863209-148863210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560365947	chr2:148863248-148863249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527526718	chr2:148863265-148863266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189595432	chr2:148863321-148863322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182245216	chr2:148863338-148863339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115054216	chr2:148863409-148863410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549481911	chr2:148863418-148863419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568063610	chr2:148863489-148863490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528941990	chr2:148863522-148863523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547120367	chr2:148863604-148863605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13032303	chr2:148863611-148863612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146027643	chr2:148863644-148863645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36058463	chr2:148863680-148863681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186194997	chr2:148863704-148863705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571013289	chr2:148863714-148863715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190997510	chr2:148863730-148863731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10439199	chr2:148863751-148863752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs138822651	chr2:148863813-148863814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574912331	chr2:148863884-148863885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12470955	chr2:148863885-148863886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141375564	chr2:148863945-148863946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6719758	chr2:148864014-148864015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150793563	chr2:148864117-148864118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545632894	chr2:148864144-148864145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567665610	chr2:148864159-148864160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137920538	chr2:148864160-148864161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531470690	chr2:148864219-148864220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543735563	chr2:148864225-148864226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561506722	chr2:148864270-148864271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528903276	chr2:148864305-148864306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD

Chromatin state (count:1001 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148837600-148866800	Weak transcription	Ovary	ovary
2	chr2:148845400-148866000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:148845400-148868000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:148851800-148867600	Weak transcription	Primary T cells from cord blood	blood
5	chr2:148854800-148874000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:148855800-148901000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:148859600-148867000	Weak transcription	Fetal Brain Male	brain
8	chr2:148861200-148889000	Weak transcription	Aorta	Aorta
9	chr2:148862000-148869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:148862800-148863000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:148863000-148881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:148863800-148864800	Enhancers	Osteobl	bone
13	chr2:148864000-148865200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:148864000-148881200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:148864200-148865000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:148864400-148865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:148864600-148865000	Enhancers	NH-A	brain
18	chr2:148864600-148883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:148864800-148880200	Weak transcription	Osteobl	bone
20	chr2:148865000-148880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:148865200-148868600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:148865400-148866400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:148866000-148866600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:148866200-148876400	Weak transcription	Fetal Lung	lung
25	chr2:148866400-148866600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:148866400-148866600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr2:148866600-148867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:148866600-148881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:148867200-148868000	Enhancers	GM12878-XiMat	blood
30	chr2:148867600-148868000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:148867600-148868000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:148867600-148868200	Enhancers	Primary T cells from cord blood	blood
33	chr2:148867600-148868200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:148867600-148868400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:148867600-148868600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:148867600-148869000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:148867600-148869000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:148867800-148868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:148867800-148869000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:148867800-148869000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:148867800-148869000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:148868000-148868200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:148868000-148868400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:148868000-148868400	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:148868000-148869200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:148868200-148868400	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:148868200-148868400	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:148868200-148872800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:148868400-148869000	Enhancers	GM12878-XiMat	blood
50	chr2:148868400-148875400	Weak transcription	Primary hematopoietic stem cells	blood

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