Variant report

Variant	nsv1026218
Chromosome Location	chr7:84199917-84227817
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:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84215550..84219199-chr7:84222001..84225003,3	K562	blood:
2	chr7:84215550..84219199-chr7:84222001..84225003,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM3-2	chr7:84213467-84213634	NR_110080
2	lnc-GRM3-2	chr7:84200295-84204159	XLOC_006159
3	lnc-GRM3-2	chr7:84200295-84200423	XLOC_006159
4	lnc-GRM3-2	chr7:84200294-84200423	NONHSAT121790
5	lnc-GRM3-2	chr7:84213466-84213638	NONHSAT121790
6	lnc-GRM3-2	chr7:84200295-84200423	NR_110080
7	lnc-GRM3-2	chr7:84213467-84213638	XLOC_006159

No data

Variant related genes	Relation type
ARHGAP1	miRNA target sites
ARFIP1	miRNA target sites

Extended variants
information (count: 226 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75458700	chr7:84200294-84200295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs193052912	chr7:84200300-84200301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114272140	chr7:84200308-84200309	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs78100777	chr7:84200346-84200347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs184585064	chr7:84200362-84200363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs545000423	chr7:84200364-84200365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556894848	chr7:84200400-84200401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575336229	chr7:84200401-84200402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187094224	chr7:84200440-84200441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs191866391	chr7:84200443-84200444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528661792	chr7:84200444-84200445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541460438	chr7:84200502-84200503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs565574522	chr7:84200539-84200540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs532997462	chr7:84200549-84200550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs551408077	chr7:84200554-84200555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs569624551	chr7:84200572-84200573	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs553913968	chr7:84200578-84200579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs150172146	chr7:84200609-84200610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs368315439	chr7:84200620-84200621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs12707657	chr7:84200673-84200674	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534499710	chr7:84200684-84200685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546539367	chr7:84200688-84200689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs57487187	chr7:84200696-84200697	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538497759	chr7:84200826-84200827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs556956174	chr7:84200830-84200831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs78046712	chr7:84200852-84200853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs184381847	chr7:84200885-84200886	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs149240520	chr7:84200895-84200896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554743319	chr7:84200917-84200918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs144463351	chr7:84200955-84200956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs139555201	chr7:84200979-84200980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs565439441	chr7:84201004-84201005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs577615704	chr7:84201049-84201050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs544892690	chr7:84201125-84201126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536293780	chr7:84201126-84201127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs115183038	chr7:84201181-84201182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs143158105	chr7:84201233-84201234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530412693	chr7:84201246-84201247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557778450	chr7:84201253-84201254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs1541356	chr7:84201308-84201309	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183763764	chr7:84201309-84201310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528331004	chr7:84201326-84201327	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs546390451	chr7:84201371-84201372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs189629105	chr7:84201405-84201406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs571078406	chr7:84201415-84201416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs73192731	chr7:84201468-84201469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs550442100	chr7:84201481-84201482	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs180900269	chr7:84201538-84201539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs185514188	chr7:84201616-84201617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555085030	chr7:84201724-84201725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84212200-84212800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:84217600-84219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:84218000-84219200	Enhancers	NHEK	skin
4	chr7:84218000-84219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:84218200-84219000	Enhancers	HMEC	breast
6	chr7:84218400-84219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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