Variant report

Variant	nsv964076
Chromosome Location	chr4:99330577-99332826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-7	chr4:99330441-99330914	NONHSAT097488

Extended variants
information (count: 68 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534896654	chr4:99330629-99330630	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs7671104	chr4:99330630-99330631	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546236398	chr4:99330696-99330697	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564424934	chr4:99330728-99330729	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs543563522	chr4:99330741-99330742	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs141583718	chr4:99330752-99330753	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs550403255	chr4:99330809-99330810	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs28411105	chr4:99330826-99330827	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576984852	chr4:99330849-99330850	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs150896909	chr4:99330900-99330901	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559374760	chr4:99330927-99330928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138165739	chr4:99330984-99330985	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529741048	chr4:99331006-99331007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566428821	chr4:99331054-99331055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533563224	chr4:99331064-99331065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372466619	chr4:99331114-99331115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149558405	chr4:99331117-99331118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183776559	chr4:99331124-99331125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113236131	chr4:99331193-99331194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115274808	chr4:99331248-99331249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575106634	chr4:99331259-99331260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79164490	chr4:99331302-99331303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554512144	chr4:99331340-99331341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144307046	chr4:99331353-99331354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188566290	chr4:99331359-99331360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181327364	chr4:99331368-99331369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140821494	chr4:99331414-99331415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79409977	chr4:99331496-99331497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564048879	chr4:99331504-99331505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79362674	chr4:99331534-99331535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186030527	chr4:99331605-99331606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35897741	chr4:99331667-99331668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548042060	chr4:99331731-99331732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560193677	chr4:99331783-99331784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570730314	chr4:99331789-99331790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527277359	chr4:99331867-99331868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551917981	chr4:99331890-99331891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570503357	chr4:99331922-99331923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148855006	chr4:99331942-99331943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531404548	chr4:99331982-99331983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190344921	chr4:99331999-99332000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549914763	chr4:99332010-99332011	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12508978	chr4:99332021-99332022	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536057963	chr4:99332052-99332053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568112524	chr4:99332068-99332069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554442308	chr4:99332081-99332082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144678746	chr4:99332130-99332131	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553564434	chr4:99332154-99332155	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539807349	chr4:99332192-99332193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557895571	chr4:99332200-99332201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99285000-99337800	Weak transcription	HUVEC	blood vessel
4	chr4:99288400-99342400	Weak transcription	A549	lung
5	chr4:99288800-99332000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:99288800-99333600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:99289000-99333000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:99289000-99333400	Weak transcription	Pancreas	Pancrea
9	chr4:99289000-99333600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:99290600-99333600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:99290600-99337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
13	chr4:99294800-99333400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:99296000-99333600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:99299400-99350800	Weak transcription	NHLF	lung
16	chr4:99299600-99338200	Weak transcription	NHDF-Ad	bronchial
17	chr4:99301600-99332000	Weak transcription	Liver	Liver
18	chr4:99303200-99333400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:99307000-99333600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
21	chr4:99307200-99333200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:99307200-99333800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:99308800-99333600	Weak transcription	Psoas Muscle	Psoas
25	chr4:99308800-99333600	Weak transcription	NHEK	skin
26	chr4:99308800-99337800	Weak transcription	Osteobl	bone
27	chr4:99310200-99333400	Weak transcription	Fetal Stomach	stomach
28	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:99312200-99333400	Weak transcription	Brain Anterior Caudate	brain
30	chr4:99313000-99331000	Weak transcription	Fetal Kidney	kidney
31	chr4:99313800-99332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:99314200-99333600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:99314400-99331000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:99315200-99333600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:99315800-99333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:99315800-99337800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:99316400-99333800	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:99316600-99332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:99317600-99332800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:99317600-99333200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:99317600-99342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:99317800-99332200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr4:99317800-99333000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:99317800-99333400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:99317800-99342800	Weak transcription	HSMMtube	muscle
46	chr4:99318000-99333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:99318000-99333400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:99318400-99333800	Weak transcription	Thymus	Thymus
49	chr4:99319000-99333400	Weak transcription	Adipose Nuclei	Adipose
50	chr4:99319000-99333600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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