Variant report

Variant	nsv824393
Chromosome Location	chr7:150439417-150439864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP5-1	chr7:150439271-150439470	NONHSAT124150

Extended variants
information (count: 41 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61753442	chr7:150439421-150439422	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs373215949	chr7:150439422-150439423	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs377457729	chr7:150439426-150439427	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs267601410	chr7:150439431-150439432	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148415755	chr7:150439437-150439438	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs142964864	chr7:150439449-150439450	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572573174	chr7:150439465-150439466	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370323356	chr7:150439467-150439468	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs146646600	chr7:150439476-150439477	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141446982	chr7:150439480-150439481	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74162071	chr7:150439488-150439489	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs759011	chr7:150439500-150439501	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs552901583	chr7:150439512-150439513	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569476446	chr7:150439521-150439522	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373837681	chr7:150439547-150439548	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61751040	chr7:150439554-150439555	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140492772	chr7:150439560-150439561	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201011395	chr7:150439564-150439565	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576606315	chr7:150439590-150439591	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202237347	chr7:150439591-150439592	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150441443	chr7:150439592-150439593	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200235816	chr7:150439625-150439626	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368965016	chr7:150439636-150439637	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375326276	chr7:150439642-150439643	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543877528	chr7:150439650-150439651	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149571417	chr7:150439654-150439655	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368627191	chr7:150439657-150439658	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs61750977	chr7:150439669-150439670	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138178760	chr7:150439699-150439700	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562399062	chr7:150439700-150439701	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183707481	chr7:150439706-150439707	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61751028	chr7:150439737-150439738	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372355155	chr7:150439759-150439760	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147182394	chr7:150439760-150439761	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569763678	chr7:150439800-150439801	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs61751036	chr7:150439824-150439825	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs199678719	chr7:150439829-150439830	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs72650695	chr7:150439838-150439839	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552913796	chr7:150439841-150439842	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375450342	chr7:150439845-150439846	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376880387	chr7:150439858-150439859	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150434600-150440600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr7:150435400-150442800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
3	chr7:150435600-150442400	Weak transcription	Ovary	ovary
4	chr7:150435800-150439600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:150435800-150441000	Weak transcription	Pancreas	Pancrea
6	chr7:150435800-150441200	Weak transcription	Gastric	stomach
7	chr7:150435800-150441800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
8	chr7:150436000-150441800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:150436200-150439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:150436200-150450200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:150436400-150439600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:150436400-150443400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr7:150436800-150442200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr7:150436800-150451400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:150437000-150439800	Weak transcription	Fetal Heart	heart
16	chr7:150437000-150441600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:150437000-150450000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:150437200-150441400	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150437200-150441600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150437200-150441600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:150437200-150442400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:150437200-150442400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
23	chr7:150437200-150442600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:150437200-150443200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr7:150437400-150439600	Strong transcription	Fetal Thymus	thymus
26	chr7:150437400-150441400	Weak transcription	Colonic Mucosa	Colon
27	chr7:150437400-150441800	Weak transcription	Thymus	Thymus
28	chr7:150437400-150443000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
29	chr7:150437400-150443200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
30	chr7:150437600-150439600	Weak transcription	Esophagus	oesophagus
31	chr7:150437600-150439800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:150437600-150443200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:150437600-150443800	Weak transcription	Small Intestine	intestine
34	chr7:150437800-150439600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:150437800-150439600	Weak transcription	Liver	Liver
36	chr7:150437800-150439600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:150437800-150439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:150438000-150439800	Weak transcription	Psoas Muscle	Psoas
39	chr7:150438000-150440400	Strong transcription	Placenta	Placenta
40	chr7:150438000-150440800	Genic enhancers	Left Ventricle	heart
41	chr7:150438000-150441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:150438000-150441800	Genic enhancers	Adipose Nuclei	Adipose
43	chr7:150438000-150442400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:150438200-150439600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:150438600-150440600	Genic enhancers	Right Ventricle	heart
46	chr7:150438600-150441200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:150438600-150442800	Genic enhancers	Spleen	Spleen
48	chr7:150438800-150440600	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:150438800-150441600	Enhancers	Right Atrium	heart
50	chr7:150439000-150439600	Enhancers	Rectal Mucosa Donor 31	rectum

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