Variant report

Variant	nsv1007998
Chromosome Location	chr2:148866051-148995570
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:28)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000115947	chromatin interactions
ENSG00000204406	chromatin interactions

Extended variants
information (count: 4364 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4364 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577866263	chr2:148866070-148866071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544940608	chr2:148866071-148866072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565338299	chr2:148866110-148866111	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575264601	chr2:148866114-148866115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540750150	chr2:148866130-148866131	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs202220433	chr2:148866132-148866133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10928375	chr2:148866193-148866194	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs368068488	chr2:148866208-148866209	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs16828252	chr2:148866214-148866215	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541737437	chr2:148866253-148866254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs559957310	chr2:148866254-148866255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558167794	chr2:148866273-148866274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs16828255	chr2:148866327-148866328	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376496374	chr2:148866370-148866371	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs189796124	chr2:148866441-148866442	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs16828258	chr2:148866482-148866483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530899352	chr2:148866484-148866485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147875012	chr2:148866539-148866540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369532558	chr2:148866588-148866589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567112245	chr2:148866656-148866657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182056485	chr2:148866698-148866699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79418370	chr2:148866711-148866712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141698360	chr2:148866726-148866727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540374386	chr2:148866795-148866796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373724921	chr2:148866801-148866802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538571064	chr2:148866820-148866821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556899517	chr2:148866842-148866843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575158725	chr2:148866859-148866860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542741050	chr2:148866990-148866991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561852202	chr2:148867002-148867003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186204308	chr2:148867142-148867143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374345962	chr2:148867213-148867214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544807454	chr2:148867222-148867223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188680361	chr2:148867270-148867271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115648114	chr2:148867273-148867274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180760522	chr2:148867281-148867282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116132532	chr2:148867307-148867308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147057148	chr2:148867310-148867311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578172422	chr2:148867332-148867333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545414175	chr2:148867337-148867338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111668663	chr2:148867340-148867341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563681570	chr2:148867353-148867354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530863442	chr2:148867355-148867356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548972767	chr2:148867435-148867436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147833557	chr2:148867452-148867453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528584400	chr2:148867453-148867454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546738581	chr2:148867477-148867478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571385944	chr2:148867498-148867499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538902033	chr2:148867532-148867533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148867986	chr2:148867536-148867537	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:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148837600-148866800	Weak transcription	Ovary	ovary
2	chr2:148845400-148868000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:148851800-148867600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:148854800-148874000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:148855800-148901000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:148859600-148867000	Weak transcription	Fetal Brain Male	brain
7	chr2:148861200-148889000	Weak transcription	Aorta	Aorta
8	chr2:148862000-148869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:148863000-148881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:148864000-148881200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:148864600-148883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:148864800-148880200	Weak transcription	Osteobl	bone
13	chr2:148865000-148880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:148865200-148868600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:148865400-148866400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:148866000-148866600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:148866200-148876400	Weak transcription	Fetal Lung	lung
18	chr2:148866400-148866600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:148866400-148866600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr2:148866600-148867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:148866600-148881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:148867200-148868000	Enhancers	GM12878-XiMat	blood
23	chr2:148867600-148868000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:148867600-148868000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:148867600-148868200	Enhancers	Primary T cells from cord blood	blood
26	chr2:148867600-148868200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:148867600-148868400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:148867600-148868600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:148867600-148869000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:148867600-148869000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:148867800-148868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:148867800-148869000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:148867800-148869000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:148867800-148869000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:148868000-148868200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:148868000-148868400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:148868000-148868400	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:148868000-148869200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:148868200-148868400	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:148868200-148868400	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:148868200-148872800	Weak transcription	Primary T cells from cord blood	blood
42	chr2:148868400-148869000	Enhancers	GM12878-XiMat	blood
43	chr2:148868400-148875400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:148868400-148876600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:148868600-148868800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:148868600-148880000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:148869000-148872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:148869200-148869400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:148869200-148870800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:148869400-148888400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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