Variant report

Variant	nsv999952
Chromosome Location	chr2:148884787-148938697
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:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:
2	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
3	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
4	chr2:148869849..148872323-chr2:148885274..148887437,2	MCF-7	breast:
5	chr2:148925257..148925927-chr2:149266799..149267551,3	MCF-7	breast:
6	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
7	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
8	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
9	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
10	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
11	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
12	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
13	chr2:148924504..148926944-chr2:148937289..148939887,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074878
2	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074871
3	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074872
4	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074875
5	lnc-MBD5-1	chr2:148936269-148936362	NONHSAT074874

No data

Extended variants
information (count: 1894 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540438530	chr2:148884878-148884879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149802349	chr2:148884949-148884950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189606947	chr2:148884963-148884964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182258394	chr2:148884993-148884994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186196717	chr2:148885000-148885001	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555988856	chr2:148885047-148885048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191001550	chr2:148885051-148885052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144716517	chr2:148885055-148885056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534846331	chr2:148885066-148885067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182884848	chr2:148885088-148885089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188831666	chr2:148885115-148885116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192925604	chr2:148885136-148885137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183085145	chr2:148885152-148885153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575644298	chr2:148885159-148885160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536257450	chr2:148885264-148885265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555006885	chr2:148885270-148885271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188034733	chr2:148885309-148885310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540401869	chr2:148885315-148885316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191358596	chr2:148885327-148885328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577193281	chr2:148885333-148885334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544556966	chr2:148885344-148885345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562340707	chr2:148885364-148885365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139919691	chr2:148885381-148885382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574214187	chr2:148885442-148885443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547883776	chr2:148885483-148885484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560156203	chr2:148885511-148885512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35486290	chr2:148885571-148885572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527405363	chr2:148885576-148885577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546767690	chr2:148885579-148885580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571550114	chr2:148885608-148885609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183884254	chr2:148885646-148885647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189446035	chr2:148885675-148885676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143331018	chr2:148885737-148885738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569462491	chr2:148885746-148885747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541502470	chr2:148885753-148885754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146722118	chr2:148885767-148885768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556910497	chr2:148885783-148885784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192654983	chr2:148885830-148885831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114305883	chr2:148885886-148885887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558775257	chr2:148885945-148885946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185589775	chr2:148885991-148885992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567474333	chr2:148885997-148885998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544422463	chr2:148886002-148886003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190049944	chr2:148886021-148886022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140452331	chr2:148886073-148886074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73964329	chr2:148886181-148886182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559919515	chr2:148886229-148886230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142670545	chr2:148886302-148886303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545543446	chr2:148886330-148886331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563844141	chr2:148886337-148886338	Weak transcription	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:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148855800-148901000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:148861200-148889000	Weak transcription	Aorta	Aorta
3	chr2:148869400-148888400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:148871000-148888200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:148872600-148885000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:148873600-148885000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:148876400-148886400	Weak transcription	Fetal Stomach	stomach
8	chr2:148876400-148887400	Weak transcription	Fetal Kidney	kidney
9	chr2:148876600-148895000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:148877400-148888000	Weak transcription	Fetal Lung	lung
11	chr2:148877400-148901200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:148880400-148888000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:148880400-148889600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:148880800-148900400	Weak transcription	HSMM	muscle
15	chr2:148881800-148895000	Weak transcription	Left Ventricle	heart
16	chr2:148882200-148884800	Weak transcription	Lung	lung
17	chr2:148882200-148888000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:148882200-148889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:148882200-148893400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:148882200-148905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:148882400-148890000	Weak transcription	NHEK	skin
22	chr2:148883800-148887800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:148884800-148885000	Enhancers	Lung	lung
24	chr2:148885000-148885200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:148887400-148888000	Enhancers	Fetal Kidney	kidney
26	chr2:148887600-148888400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:148887600-148889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:148887800-148888000	Enhancers	A549	lung
29	chr2:148887800-148888200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:148887800-148888400	Enhancers	NHDF-Ad	bronchial
31	chr2:148887800-148888600	Enhancers	Osteobl	bone
32	chr2:148887800-148888800	Enhancers	HepG2	liver
33	chr2:148888000-148888200	Enhancers	Fetal Lung	lung
34	chr2:148888000-148888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:148888000-148888800	Flanking Active TSS	A549	lung
36	chr2:148888000-148890000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:148888200-148888400	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:148888200-148888600	Enhancers	Fetal Intestine Large	intestine
39	chr2:148888200-148888600	Weak transcription	Fetal Lung	lung
40	chr2:148888200-148888600	Enhancers	HSMMtube	muscle
41	chr2:148888200-148888600	Enhancers	NH-A	brain
42	chr2:148888200-148888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:148888200-148888800	Enhancers	Colon Smooth Muscle	Colon
44	chr2:148888200-148888800	Enhancers	NHLF	lung
45	chr2:148888200-148889600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:148888400-148888600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:148888400-148888800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:148888400-148889400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:148888400-148889600	Weak transcription	NHDF-Ad	bronchial
50	chr2:148888600-148888800	Enhancers	Fetal Lung	lung

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