Variant report

Variant	esv1792067
Chromosome Location	chr5:108521224-108542526
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:108524535..108526775-chr5:108529548..108531375,2	K562	blood:
2	chr5:108061485..108063764-chr5:108531094..108533966,2	K562	blood:
3	chr5:108519054..108521988-chr5:108744130..108746453,2	MCF-7	breast:
4	chr5:108529011..108530852-chr5:108533956..108535582,2	K562	blood:
5	chr5:108529011..108530852-chr5:108533956..108535582,2	K562	blood:
6	chr5:108524535..108526775-chr5:108529548..108531375,2	K562	blood:
7	chr5:108529352..108531980-chr5:108534082..108536606,2	K562	blood:
8	chr5:108529352..108531980-chr5:108534082..108536606,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAN2A1-6	chr5:108528056-108530759	NONHSAT103133

No data

Variant related genes	Relation type
ENSG00000198961	chromatin interactions

Extended variants
information (count: 932 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532234864	chr5:108521241-108521242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545683849	chr5:108521276-108521277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191019744	chr5:108521308-108521309	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183290056	chr5:108521314-108521315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548254788	chr5:108521316-108521317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568092908	chr5:108521334-108521335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527282819	chr5:108521335-108521336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547360213	chr5:108521340-108521341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188168592	chr5:108521352-108521353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190988597	chr5:108521381-108521382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558905222	chr5:108521436-108521437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569396194	chr5:108521460-108521461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7737268	chr5:108521478-108521479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555024917	chr5:108521486-108521487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182308954	chr5:108521532-108521533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141407551	chr5:108521536-108521537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571988510	chr5:108521572-108521573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146986959	chr5:108521582-108521583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576749341	chr5:108521614-108521615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546046678	chr5:108521632-108521633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187679602	chr5:108521639-108521640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567332180	chr5:108521654-108521655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576165980	chr5:108521677-108521678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541609630	chr5:108521694-108521695	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561760175	chr5:108521727-108521728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540963146	chr5:108521733-108521734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527342942	chr5:108521777-108521778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547416909	chr5:108521846-108521847	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374138056	chr5:108521856-108521857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192590388	chr5:108521883-108521884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78007324	chr5:108521893-108521894	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141853188	chr5:108521908-108521909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145807358	chr5:108521910-108521911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202063368	chr5:108521924-108521925	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55876507	chr5:108521932-108521933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201346702	chr5:108521939-108521940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200387943	chr5:108521971-108521972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141252882	chr5:108521977-108521978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146949083	chr5:108522021-108522022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368741689	chr5:108522038-108522039	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188686272	chr5:108522059-108522060	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539382212	chr5:108522104-108522105	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556421293	chr5:108522108-108522109	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147610102	chr5:108522134-108522135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192526599	chr5:108522175-108522176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572860648	chr5:108522177-108522178	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541273350	chr5:108522191-108522192	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142094273	chr5:108522214-108522215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79787099	chr5:108522224-108522225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184865593	chr5:108522225-108522226	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
3	chr5:108496000-108532800	Weak transcription	Ovary	ovary
4	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
5	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
9	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
10	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
11	chr5:108509000-108521600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:108509200-108523200	Weak transcription	HSMM	muscle
13	chr5:108510600-108521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:108512000-108521800	Weak transcription	NHEK	skin
15	chr5:108512200-108521800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:108513400-108522000	Weak transcription	Fetal Brain Female	brain
17	chr5:108513600-108521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:108513600-108521800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:108513600-108521800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:108513600-108523000	Weak transcription	Fetal Stomach	stomach
21	chr5:108513800-108521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:108513800-108521800	Weak transcription	Fetal Lung	lung
23	chr5:108513800-108523200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:108514000-108521400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:108514000-108523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:108514200-108521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:108514800-108521800	Weak transcription	Liver	Liver
29	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:108516200-108521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:108516200-108521600	Weak transcription	HMEC	breast
33	chr5:108517200-108521800	Weak transcription	Lung	lung
34	chr5:108517200-108523000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:108517200-108523400	Weak transcription	Thymus	Thymus
36	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
37	chr5:108517400-108523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine
39	chr5:108517800-108521600	Weak transcription	Primary B cells from cord blood	blood
40	chr5:108518800-108521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:108518800-108526400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:108519000-108521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:108519200-108526200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:108519400-108525400	Weak transcription	Right Ventricle	heart
45	chr5:108519600-108521800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:108519800-108521800	Weak transcription	HepG2	liver
47	chr5:108520000-108521600	Weak transcription	Brain Anterior Caudate	brain
48	chr5:108520000-108521600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:108520000-108526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:108520200-108521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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