Variant report

Variant	nsv961895
Chromosome Location	chr2:148973761-148977738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148976677..148978352-chr2:149006227..149008013,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148977516-148977602	NONHSAT074878

Extended variants
information (count: 120 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137873129	chr2:148973804-148973805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202219687	chr2:148973808-148973809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543319317	chr2:148973812-148973813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561736644	chr2:148973842-148973843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143213497	chr2:148973846-148973847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558761553	chr2:148973902-148973903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183283400	chr2:148973907-148973908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559062309	chr2:148973926-148973927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534777343	chr2:148974001-148974002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552382472	chr2:148974077-148974078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564486562	chr2:148974094-148974095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186631319	chr2:148974108-148974109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140942254	chr2:148974153-148974154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55970036	chr2:148974184-148974185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56312046	chr2:148974192-148974193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568732834	chr2:148974292-148974293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553009518	chr2:148974294-148974295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533665654	chr2:148974310-148974311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535518474	chr2:148974318-148974319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547793996	chr2:148974351-148974352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566203967	chr2:148974357-148974358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550163559	chr2:148974376-148974377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377509536	chr2:148974382-148974383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569692980	chr2:148974470-148974471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191481574	chr2:148974543-148974544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184790015	chr2:148974544-148974545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555423041	chr2:148974589-148974590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74542474	chr2:148974600-148974601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573870687	chr2:148974633-148974634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540661737	chr2:148974639-148974640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558901808	chr2:148974668-148974669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200135482	chr2:148974688-148974689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187993195	chr2:148974701-148974702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193073385	chr2:148974774-148974775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544661809	chr2:148974779-148974780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185364891	chr2:148974781-148974782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4972338	chr2:148974872-148974873	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543984027	chr2:148974928-148974929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576651040	chr2:148975036-148975037	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562276218	chr2:148975041-148975042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143063651	chr2:148975049-148975050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547832295	chr2:148975096-148975097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565334257	chr2:148975117-148975118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566046565	chr2:148975151-148975152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533476733	chr2:148975176-148975177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56081922	chr2:148975261-148975262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551541450	chr2:148975264-148975265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376093516	chr2:148975265-148975266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190264116	chr2:148975353-148975354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148351186	chr2:148975435-148975436	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148913000-148977600	Weak transcription	Aorta	Aorta
2	chr2:148928600-148993600	Weak transcription	HSMM	muscle
3	chr2:148931200-148993200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:148944000-148987400	Weak transcription	Ovary	ovary
5	chr2:148944200-148978400	Weak transcription	Left Ventricle	heart
6	chr2:148944600-148978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:148959200-148987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:148959400-148978400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:148959400-148987000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:148959400-148993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:148959600-148978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:148959600-148986800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:148966000-148994400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:148968800-148976400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:148969600-148975000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:148971200-148978200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:148971600-148974800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:148971800-148979600	Weak transcription	Fetal Brain Male	brain
19	chr2:148972400-148993000	Weak transcription	NHDF-Ad	bronchial
20	chr2:148973200-148977000	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:148973800-148978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:148974800-148975200	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:148975000-148977000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:148975200-148979400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:148976000-148976800	Enhancers	Fetal Lung	lung
26	chr2:148976800-148977000	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:148976800-148978600	Weak transcription	Fetal Lung	lung
28	chr2:148977000-148992000	Weak transcription	Rectal Smooth Muscle	rectum

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