Variant report

Variant	esv1845769
Chromosome Location	chr5:115730278-115763979
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115714143..115716016-chr5:115739014..115740918,2	K562	blood:
2	chr5:115763956..115765472-chr5:115766076..115768967,2	K562	blood:
3	chr5:115762949..115765718-chr5:115769908..115771638,2	MCF-7	breast:
4	chr5:115743076..115744681-chr5:115750729..115752483,2	MCF-7	breast:
5	chr5:115743076..115744681-chr5:115750729..115752483,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-6	chr5:115763078-115763230	l_3000_chr5:115661715-115668338_thyroid
2	lnc-LVRN.1-4	chr5:115748340-115748459	NONHSAT103358
3	lnc-LVRN.1-4	chr5:115735179-115735319	NONHSAT103358

No data

Extended variants
information (count: 1471 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1471 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17139687	chr5:115730278-115730279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138450494	chr5:115730316-115730317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551152887	chr5:115730336-115730337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556147387	chr5:115730337-115730338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185986436	chr5:115730348-115730349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545028165	chr5:115730349-115730350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367865840	chr5:115730360-115730361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576508944	chr5:115730425-115730426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370122202	chr5:115730481-115730482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564813190	chr5:115730503-115730504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140500571	chr5:115730504-115730505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374478464	chr5:115730512-115730513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67682090	chr5:115730513-115730514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60910696	chr5:115730526-115730527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73781064	chr5:115730527-115730528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538203262	chr5:115730528-115730529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201803900	chr5:115730529-115730530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561157529	chr5:115730544-115730545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73781065	chr5:115730563-115730564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550060017	chr5:115730606-115730607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555885705	chr5:115730609-115730610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58757229	chr5:115730616-115730617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552571821	chr5:115730684-115730685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566009518	chr5:115730763-115730764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535132988	chr5:115730799-115730800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538803770	chr5:115730827-115730828	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567471951	chr5:115730829-115730830	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536496753	chr5:115730853-115730854	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539532059	chr5:115730881-115730882	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79228938	chr5:115730915-115730916	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576439102	chr5:115730917-115730918	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73781066	chr5:115730922-115730923	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558538891	chr5:115730932-115730933	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190570048	chr5:115730948-115730949	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75562532	chr5:115730966-115730967	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560697955	chr5:115730968-115730969	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs56023996	chr5:115730973-115730974	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543646242	chr5:115730974-115730975	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563620258	chr5:115731026-115731027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532859516	chr5:115731056-115731057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150525425	chr5:115731140-115731141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73781067	chr5:115731178-115731179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542186897	chr5:115731200-115731201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548697485	chr5:115731201-115731202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184204712	chr5:115731204-115731205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79790533	chr5:115731217-115731218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs572572330	chr5:115731218-115731219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79505184	chr5:115731219-115731220	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79971110	chr5:115731233-115731234	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11315703	chr5:115731236-115731237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:115711800-115730600	Weak transcription	Gastric	stomach
5	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
6	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:115718800-115731000	Weak transcription	Spleen	Spleen
8	chr5:115719400-115734800	Weak transcription	Primary T cells from cord blood	blood
9	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:115724800-115745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:115724800-115749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:115726200-115731600	Weak transcription	Aorta	Aorta
14	chr5:115728400-115730800	Weak transcription	Fetal Intestine Small	intestine
15	chr5:115729400-115733200	Enhancers	Psoas Muscle	Psoas
16	chr5:115729400-115733200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:115729400-115733200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:115730000-115731000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:115730000-115732800	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:115730200-115730800	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:115730200-115731600	Enhancers	Fetal Muscle Trunk	muscle
22	chr5:115730200-115731800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:115730200-115732600	Enhancers	Esophagus	oesophagus
24	chr5:115730200-115732600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:115730200-115732800	Enhancers	Fetal Muscle Leg	muscle
26	chr5:115730200-115732800	Enhancers	Left Ventricle	heart
27	chr5:115730200-115733000	Enhancers	Right Ventricle	heart
28	chr5:115730400-115731800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:115730400-115732400	Enhancers	Fetal Kidney	kidney
30	chr5:115730400-115733000	Enhancers	Colon Smooth Muscle	Colon
31	chr5:115730400-115769600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:115730600-115731000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:115730600-115731000	Enhancers	Gastric	stomach
34	chr5:115730600-115731800	Enhancers	Brain Anterior Caudate	brain
35	chr5:115730600-115732200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:115730600-115732400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:115730600-115732600	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:115730600-115732600	Enhancers	Brain Hippocampus Middle	brain
39	chr5:115730600-115732600	Enhancers	Brain Substantia Nigra	brain
40	chr5:115730600-115732800	Enhancers	Lung	lung
41	chr5:115730600-115732800	Enhancers	Ovary	ovary
42	chr5:115730600-115732800	Enhancers	Right Atrium	heart
43	chr5:115730800-115731000	Genic enhancers	Fetal Intestine Small	intestine
44	chr5:115730800-115731200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:115730800-115731600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:115730800-115731600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:115730800-115731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:115730800-115731800	Enhancers	Placenta	Placenta
49	chr5:115730800-115732600	Enhancers	Fetal Stomach	stomach
50	chr5:115730800-115733000	Enhancers	Duodenum Smooth Muscle	Duodenum

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