Variant report

Variant	nsv1025678
Chromosome Location	chr5:111365866-111417198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111400696..111402728-chr5:111496476..111498260,2	K562	blood:
2	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:
3	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:

Variant related genes	Relation type
ENSG00000238363	chromatin interactions
ENSG00000224032	chromatin interactions

Extended variants
information (count: 533 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572519003	chr5:111369615-111369616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182197653	chr5:111369621-111369622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114539528	chr5:111369628-111369629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529539058	chr5:111369634-111369635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188086904	chr5:111369635-111369636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563084097	chr5:111369656-111369657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533294370	chr5:111369675-111369676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141337693	chr5:111369688-111369689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371222526	chr5:111369770-111369771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572698168	chr5:111369804-111369805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566821002	chr5:111369805-111369806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150276557	chr5:111369806-111369807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377377722	chr5:111369816-111369817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536912032	chr5:111369835-111369836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535729322	chr5:111369850-111369851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115336278	chr5:111369854-111369855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs255910	chr5:111369892-111369893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539222337	chr5:111369908-111369909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201729015	chr5:111369910-111369911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554851455	chr5:111369940-111369941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12652059	chr5:111369955-111369956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576060525	chr5:111369962-111369963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539886980	chr5:111369988-111369989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373899535	chr5:111369994-111369995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368494036	chr5:111369998-111369999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574030134	chr5:111370040-111370041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35309564	chr5:111370071-111370072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34511481	chr5:111370077-111370078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563012181	chr5:111370103-111370104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532655474	chr5:111370200-111370201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138923528	chr5:111370213-111370214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149246246	chr5:111370221-111370222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545233418	chr5:111370244-111370245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560573234	chr5:111370248-111370249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527784439	chr5:111370251-111370252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564977584	chr5:111370261-111370262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191011160	chr5:111370279-111370280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183684001	chr5:111370292-111370293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116472586	chr5:111370318-111370319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188255394	chr5:111370353-111370354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192939682	chr5:111370369-111370370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551283984	chr5:111370376-111370377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56943370	chr5:111370404-111370405	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77918952	chr5:111370420-111370421	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573323645	chr5:111370438-111370439	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563173829	chr5:111370488-111370489	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs137899544	chr5:111370530-111370531	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143563898	chr5:111370655-111370656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374267270	chr5:111370661-111370662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184906846	chr5:111370781-111370782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111369600-111370400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:111370400-111370600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:111370600-111370800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:111384000-111384200	ZNF genes & repeats	Gastric	stomach
5	chr5:111384200-111385400	Weak transcription	Gastric	stomach
6	chr5:111386600-111387000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:111395400-111395800	Enhancers	HSMMtube	muscle
8	chr5:111397000-111397200	Enhancers	Pancreas	Pancrea
9	chr5:111397000-111397400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:111397400-111399400	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:111399400-111400600	Enhancers	Fetal Muscle Leg	muscle
12	chr5:111399400-111401600	Enhancers	Fetal Stomach	stomach
13	chr5:111399600-111399800	Enhancers	Fetal Brain Male	brain
14	chr5:111399800-111400600	Weak transcription	Fetal Brain Male	brain
15	chr5:111400200-111402600	Enhancers	Fetal Lung	lung
16	chr5:111401200-111401400	Enhancers	Fetal Brain Male	brain
17	chr5:111401600-111402000	Weak transcription	Fetal Stomach	stomach
18	chr5:111402000-111402600	Enhancers	Fetal Stomach	stomach
19	chr5:111402200-111402400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:111403000-111403200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:111405600-111406000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:111405600-111406000	Enhancers	NHEK	skin
23	chr5:111405600-111406600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:111406600-111407000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:111412600-111412800	Enhancers	GM12878-XiMat	blood
26	chr5:111412800-111413400	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:111413000-111413400	Enhancers	Dnd41	blood
28	chr5:111413000-111413600	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links