Variant report

Variant	nsv875276
Chromosome Location	chr2:148844369-148996824
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:37)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
2	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
3	chr2:148869849..148872323-chr2:148885274..148887437,2	MCF-7	breast:
4	chr2:148925257..148925927-chr2:149266799..149267551,3	MCF-7	breast:
5	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
6	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
7	chr2:148852527..148854088-chr2:148860647..148862456,2	MCF-7	breast:
8	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:
9	chr2:148869849..148872323-chr2:148885274..148887437,2	MCF-7	breast:
10	chr2:148960078..148961760-chr2:148963590..148966098,2	MCF-7	breast:
11	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
12	chr2:148964117..148966027-chr2:148967186..148969154,2	MCF-7	breast:
13	chr2:148967081..148967666-chr2:149266757..149267493,2	MCF-7	breast:
14	chr2:148996066..148998300-chr2:149002088..149004966,2	K562	blood:
15	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
16	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
17	chr2:148852527..148854088-chr2:148860647..148862456,2	MCF-7	breast:
18	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:
19	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
20	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
21	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
22	chr2:148951330..148953430-chr2:148956133..148959129,2	K562	blood:
23	chr2:148746466..148747928-chr2:148959011..148960040,7	MCF-7	breast:
24	chr2:148777816..148780257-chr2:148961269..148962957,2	MCF-7	breast:
25	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
26	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
27	chr2:148995742..148998637-chr2:149000873..149004003,3	MCF-7	breast:
28	chr2:148951330..148953430-chr2:148956133..148959129,2	K562	blood:
29	chr2:148747178..148748066-chr2:148853587..148854325,3	MCF-7	breast:
30	chr2:148976677..148978352-chr2:149006227..149008013,2	MCF-7	breast:
31	chr2:148994771..148998300-chr2:149002088..149006299,3	K562	blood:
32	chr2:148964117..148966027-chr2:148967186..148969154,2	MCF-7	breast:
33	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
34	chr2:148695045..148696010-chr2:148958677..148959570,5	K562	blood:
35	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
36	chr2:148960078..148961760-chr2:148963590..148966098,2	MCF-7	breast:
37	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:

(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	chr2:148990814-148990964	NONHSAT074872
4	lnc-MBD5-1	chr2:148990814-148990964	NONHSAT074878
5	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074871
6	lnc-MBD5-1	chr2:148990814-148990896	NONHSAT074874
7	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074878
8	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074874
9	lnc-MBD5-1	chr2:148977516-148977602	NONHSAT074878

No data

Variant related genes	Relation type
ENSG00000204406	chromatin interactions
ENSG00000115947	chromatin interactions

Extended variants
information (count: 5093 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5093 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1234413	chr2:148844369-148844370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377312725	chr2:148844370-148844371	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537898186	chr2:148844419-148844420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561288220	chr2:148844426-148844427	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577582753	chr2:148844431-148844432	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528715752	chr2:148844525-148844526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546953476	chr2:148844559-148844560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189387169	chr2:148844578-148844579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532364941	chr2:148844579-148844580	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193301917	chr2:148844611-148844612	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142068697	chr2:148844620-148844621	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13426527	chr2:148844643-148844644	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs13389052	chr2:148844738-148844739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566533917	chr2:148844740-148844741	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534020236	chr2:148844807-148844808	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539155686	chr2:148844831-148844832	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577167856	chr2:148844839-148844840	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73007156	chr2:148844875-148844876	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115541315	chr2:148844912-148844913	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559281225	chr2:148844972-148844973	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574499189	chr2:148844984-148844985	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541929626	chr2:148844985-148844986	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560218423	chr2:148844998-148844999	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573351220	chr2:148845018-148845019	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540865799	chr2:148845077-148845078	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573125667	chr2:148845087-148845088	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550150400	chr2:148845088-148845089	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532622147	chr2:148845149-148845150	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201330874	chr2:148845172-148845173	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371114515	chr2:148845174-148845175	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185141317	chr2:148845238-148845239	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562509977	chr2:148845259-148845260	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76185089	chr2:148845388-148845389	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190093114	chr2:148845390-148845391	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566994821	chr2:148845394-148845395	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527791974	chr2:148845424-148845425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181732741	chr2:148845481-148845482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7595067	chr2:148845491-148845492	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555169374	chr2:148845497-148845498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185358102	chr2:148845506-148845507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556530526	chr2:148845523-148845524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148668442	chr2:148845532-148845533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs188611601	chr2:148845574-148845575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549142676	chr2:148845585-148845586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535478297	chr2:148845835-148845836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571626975	chr2:148845847-148845848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576832773	chr2:148845892-148845893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572068689	chr2:148845897-148845898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539149783	chr2:148845913-148845914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs34374361	chr2:148845936-148845937	Weak transcription ZNF genes & repeats	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:1196 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:148800000-148844600	Weak transcription	Fetal Lung	lung
3	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:148807000-148844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:148812600-148845000	Weak transcription	HSMM	muscle
6	chr2:148821200-148857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:148826000-148861000	Weak transcription	Left Ventricle	heart
8	chr2:148826600-148844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:148834200-148844800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:148834600-148856400	Weak transcription	HSMMtube	muscle
11	chr2:148834800-148844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:148836400-148844800	Weak transcription	Fetal Kidney	kidney
13	chr2:148836800-148853400	Weak transcription	NHDF-Ad	bronchial
14	chr2:148837000-148849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:148837400-148853000	Weak transcription	HUVEC	blood vessel
16	chr2:148837600-148866800	Weak transcription	Ovary	ovary
17	chr2:148838000-148844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:148838000-148844800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:148838200-148844400	Weak transcription	Fetal Thymus	thymus
20	chr2:148838800-148844600	Weak transcription	Liver	Liver
21	chr2:148839400-148844800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:148839400-148844800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:148839600-148844600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:148839800-148844800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:148841200-148844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:148841200-148844600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:148841200-148844600	Weak transcription	Thymus	Thymus
28	chr2:148841200-148846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:148841800-148845800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:148842200-148851600	Weak transcription	Fetal Heart	heart
31	chr2:148842400-148844800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:148842400-148845600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:148842800-148844400	Weak transcription	Fetal Stomach	stomach
34	chr2:148842800-148844600	Weak transcription	Aorta	Aorta
35	chr2:148842800-148844600	Weak transcription	Dnd41	blood
36	chr2:148843000-148844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:148843000-148845000	Weak transcription	Primary B cells from cord blood	blood
38	chr2:148843000-148853200	Weak transcription	Osteobl	bone
39	chr2:148843200-148853200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:148843600-148845000	Weak transcription	Placenta	Placenta
41	chr2:148843600-148847800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:148843600-148860600	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:148843800-148845200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:148843800-148845400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:148843800-148846200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:148843800-148846200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:148844000-148845200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr2:148844000-148845200	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr2:148844000-148845400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:148844000-148845400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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