Variant report

Variant	esv3432300
Chromosome Location	chr5:40698244-40726882
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40713762..40716237-chr5:40720241..40722036,2	K562	blood:
2	chr5:40709524..40711969-chr5:40713711..40715521,2	MCF-7	breast:
3	chr5:40678891..40680674-chr5:40712439..40714300,2	MCF-7	breast:
4	chr5:40709524..40711969-chr5:40713711..40715521,2	MCF-7	breast:
5	chr5:40718963..40720614-chr5:40731326..40734090,2	MCF-7	breast:
6	chr5:40715728..40718474-chr5:40825632..40827320,2	K562	blood:
7	chr5:40527466..40528991-chr5:40713230..40715351,2	MCF-7	breast:
8	chr5:40713762..40716237-chr5:40720241..40722036,2	K562	blood:
9	chr5:40688311..40688886-chr5:40715917..40716747,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC33-2	chr5:40711696-40713273	NONHSAT101146

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TTC33	hsa-miR-218-5p	chr5:40715195-40715215

Variant related genes	Relation type
ENSG00000171522	chromatin interactions

Extended variants
information (count: 1060 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565400075	chr5:40698274-40698275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532636474	chr5:40698341-40698342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551236421	chr5:40698352-40698353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111789476	chr5:40698366-40698367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569521910	chr5:40698369-40698370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538545914	chr5:40698391-40698392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62356468	chr5:40698394-40698395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs13155157	chr5:40698397-40698398	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs533802319	chr5:40698410-40698411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150825769	chr5:40698529-40698530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182846653	chr5:40698555-40698556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537540456	chr5:40698567-40698568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555989318	chr5:40698616-40698617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188945504	chr5:40698630-40698631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193265090	chr5:40698636-40698637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369017687	chr5:40698744-40698745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183084117	chr5:40698764-40698765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572219645	chr5:40698842-40698843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540656480	chr5:40698844-40698845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139921278	chr5:40698851-40698852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111319136	chr5:40698883-40698884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544720168	chr5:40698986-40698987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200746658	chr5:40699001-40699002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562928563	chr5:40699023-40699024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147703291	chr5:40699099-40699100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542026558	chr5:40699114-40699115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372936590	chr5:40699132-40699133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527966197	chr5:40699138-40699139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57806386	chr5:40699186-40699187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370977486	chr5:40699231-40699232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533870480	chr5:40699296-40699297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113839275	chr5:40699297-40699298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568312418	chr5:40699331-40699332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187451251	chr5:40699345-40699346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59069340	chr5:40699365-40699366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs191946558	chr5:40699377-40699378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531106905	chr5:40699439-40699440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200210322	chr5:40699473-40699474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397722290	chr5:40699474-40699475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377628602	chr5:40699475-40699476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373222168	chr5:40699479-40699480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4277957	chr5:40699518-40699519	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs567782783	chr5:40699557-40699558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142517265	chr5:40699568-40699569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528742368	chr5:40699618-40699619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549307993	chr5:40699664-40699665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4509070	chr5:40699684-40699685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs367829720	chr5:40699756-40699757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567473552	chr5:40699765-40699766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114069515	chr5:40699819-40699820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40684000-40700600	Weak transcription	Left Ventricle	heart
2	chr5:40684600-40700400	Weak transcription	Right Ventricle	heart
3	chr5:40688400-40700400	Weak transcription	Stomach Mucosa	stomach
4	chr5:40688800-40718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:40692200-40701800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:40692600-40698600	Weak transcription	HSMMtube	muscle
8	chr5:40692800-40700400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:40692800-40700400	Weak transcription	Esophagus	oesophagus
10	chr5:40692800-40700400	Weak transcription	Gastric	stomach
11	chr5:40692800-40700400	Weak transcription	Pancreas	Pancrea
12	chr5:40692800-40700400	Weak transcription	Small Intestine	intestine
13	chr5:40692800-40700600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:40692800-40702400	Weak transcription	Colonic Mucosa	Colon
15	chr5:40692800-40721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:40693000-40700800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:40693000-40701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:40693000-40701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:40693000-40702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:40693000-40702000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:40693800-40700000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:40694400-40699000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:40694600-40698400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:40694600-40700400	Weak transcription	Lung	lung
28	chr5:40694600-40700600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:40694800-40700200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:40694800-40700400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:40694800-40700400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:40694800-40700400	Weak transcription	Aorta	Aorta
33	chr5:40694800-40700400	Weak transcription	Fetal Stomach	stomach
34	chr5:40694800-40700400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:40694800-40700400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:40694800-40700400	Weak transcription	Spleen	Spleen
37	chr5:40694800-40700600	Weak transcription	HUVEC	blood vessel
38	chr5:40694800-40701600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:40694800-40701600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:40694800-40702200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:40694800-40721000	Weak transcription	Thymus	Thymus
42	chr5:40695000-40700400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:40695000-40700400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:40695000-40701800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:40695200-40698400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:40695200-40699600	Weak transcription	Dnd41	blood
47	chr5:40695200-40700200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:40695200-40700600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:40695200-40701800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:40695200-40715800	Weak transcription	Primary B cells from cord blood	blood

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