Variant report

Variant	nsv516640
Chromosome Location	chr7:50565963-50568735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:
2	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:
3	chr7:50565140..50566781-chr7:50570058..50572270,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IKZF1-7	chr7:50566951-50567074	refGeneNc_4230_NR_033845

Extended variants
information (count: 130 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11575404	chr7:50565963-50565964	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4947581	chr7:50565967-50565968	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs550076719	chr7:50565986-50565987	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569142515	chr7:50565995-50565996	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75220907	chr7:50566009-50566010	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558256237	chr7:50566017-50566018	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4947582	chr7:50566090-50566091	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11575401	chr7:50566110-50566111	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534351493	chr7:50566150-50566151	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150748743	chr7:50566161-50566162	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574224893	chr7:50566165-50566166	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542932923	chr7:50566167-50566168	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563210212	chr7:50566172-50566173	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139070539	chr7:50566181-50566182	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544606340	chr7:50566184-50566185	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564595802	chr7:50566198-50566199	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527375823	chr7:50566203-50566204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187587954	chr7:50566266-50566267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36104801	chr7:50566274-50566275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11575400	chr7:50566292-50566293	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547877445	chr7:50566295-50566296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549772846	chr7:50566324-50566325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569956914	chr7:50566352-50566353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11575399	chr7:50566357-50566358	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3807563	chr7:50566390-50566391	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs11575397	chr7:50566422-50566423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538393367	chr7:50566423-50566424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554272519	chr7:50566450-50566451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559970546	chr7:50566480-50566481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192638243	chr7:50566509-50566510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149458064	chr7:50566536-50566537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576335612	chr7:50566571-50566572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147152379	chr7:50566606-50566607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113975155	chr7:50566641-50566642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561349272	chr7:50566666-50566667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558125968	chr7:50566667-50566668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3807562	chr7:50566671-50566672	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs11575395	chr7:50566686-50566687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11575394	chr7:50566687-50566688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11575393	chr7:50566698-50566699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201795707	chr7:50566713-50566714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11575392	chr7:50566717-50566718	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539352902	chr7:50566742-50566743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs45551432	chr7:50566758-50566759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2876829	chr7:50566762-50566763	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs185019451	chr7:50566774-50566775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189135065	chr7:50566775-50566776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372242937	chr7:50566801-50566802	Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201766904	chr7:50566802-50566803	Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369667328	chr7:50566835-50566836	Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:50562800-50566000	Enhancers	Fetal Intestine Large	intestine
5	chr7:50562800-50566200	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:50562800-50566200	Genic enhancers	Fetal Intestine Small	intestine
7	chr7:50563600-50566200	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:50563800-50566000	Enhancers	Stomach Mucosa	stomach
9	chr7:50564000-50566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:50564000-50566200	Enhancers	Ovary	ovary
11	chr7:50564200-50566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:50564200-50566200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:50564400-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:50564400-50566200	Enhancers	Adipose Nuclei	Adipose
15	chr7:50564400-50566200	Enhancers	Small Intestine	intestine
16	chr7:50564600-50566000	Enhancers	NHDF-Ad	bronchial
17	chr7:50564600-50566200	Enhancers	NHEK	skin
18	chr7:50564800-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:50565000-50566600	Enhancers	HMEC	breast
20	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:50565200-50566200	Enhancers	K562	blood
23	chr7:50565200-50566800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50565200-50568600	Weak transcription	Gastric	stomach
25	chr7:50565200-50569800	Weak transcription	Right Atrium	heart
26	chr7:50565200-50570000	Weak transcription	Left Ventricle	heart
27	chr7:50565200-50570200	Weak transcription	Lung	lung
28	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:50565400-50566000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:50565400-50566400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:50565400-50568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:50565400-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:50565400-50570000	Weak transcription	Pancreas	Pancrea
35	chr7:50565400-50570000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:50565400-50570000	Enhancers	Hela-S3	cervix
37	chr7:50565600-50566000	Weak transcription	Colonic Mucosa	Colon
38	chr7:50565600-50566000	Weak transcription	Fetal Stomach	stomach
39	chr7:50565600-50566000	Weak transcription	Spleen	Spleen
40	chr7:50565600-50566400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:50565600-50569800	Weak transcription	Fetal Lung	lung
42	chr7:50565800-50566200	Enhancers	Psoas Muscle	Psoas
43	chr7:50565800-50566600	Enhancers	HUVEC	blood vessel
44	chr7:50565800-50569000	Strong transcription	HepG2	liver
45	chr7:50565800-50570000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:50566000-50566200	Enhancers	Colonic Mucosa	Colon
47	chr7:50566000-50566200	Enhancers	Fetal Stomach	stomach
48	chr7:50566000-50566200	Enhancers	Spleen	Spleen
49	chr7:50566000-50566400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:50566000-50569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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