Variant report

Variant	nsv1017793
Chromosome Location	chr7:56051267-56098030
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:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56058999..56060634-chr7:56071137..56073570,2	K562	blood:
2	chr7:56032346..56034180-chr7:56063037..56065677,2	K562	blood:
3	chr7:56056696..56058990-chr7:56060045..56061813,2	K562	blood:
4	chr7:56092875..56095055-chr7:56099185..56100786,2	MCF-7	breast:
5	chr7:56032122..56033835-chr7:56074864..56077337,2	MCF-7	breast:
6	chr7:56032652..56034733-chr7:56068791..56071272,3	K562	blood:
7	chr7:56066101..56068145-chr7:56131960..56133537,2	K562	blood:
8	chr7:56094252..56096504-chr7:56118049..56120713,2	MCF-7	breast:
9	chr7:56072282..56073173-chr7:56141696..56142725,3	K562	blood:
10	chr7:56045426..56048074-chr7:56049775..56052660,2	K562	blood:
11	chr7:56058999..56060634-chr7:56071137..56073570,2	K562	blood:
12	chr7:56093650..56095156-chr7:56099679..56101422,2	K562	blood:
13	chr7:56072684..56074184-chr7:56076449..56078761,2	K562	blood:
14	chr7:56095133..56098395-chr7:56099647..56103046,4	MCF-7	breast:
15	chr7:56048174..56049686-chr7:56050042..56052872,3	K562	blood:
16	chr7:56065336..56067642-chr7:56077317..56078843,2	K562	blood:
17	chr7:56072684..56074184-chr7:56076449..56078761,2	K562	blood:
18	chr7:56063396..56065419-chr7:56070475..56072747,2	K562	blood:
19	chr7:56073380..56075389-chr7:56117941..56120031,2	MCF-7	breast:
20	chr7:56072237..56073065-chr7:56132401..56132952,2	K562	blood:
21	chr7:56060305..56063042-chr7:56167719..56169963,2	K562	blood:
22	chr7:56035043..56037543-chr7:56067785..56069353,2	MCF-7	breast:
23	chr7:56055457..56057798-chr7:56063641..56066614,2	K562	blood:
24	chr7:56070239..56071962-chr7:56127047..56129312,2	MCF-7	breast:
25	chr7:56055457..56057798-chr7:56063641..56066614,2	K562	blood:
26	chr7:56095555..56097443-chr7:56098499..56101480,2	MCF-7	breast:
27	chr7:56095036..56098595-chr7:56117042..56120763,4	MCF-7	breast:
28	chr7:56065111..56067015-chr7:56100596..56103404,2	MCF-7	breast:
29	chr7:56068795..56071172-chr7:56116884..56119836,2	MCF-7	breast:
30	chr7:56063396..56065419-chr7:56070475..56072747,2	K562	blood:
31	chr7:56065336..56067642-chr7:56077317..56078843,2	K562	blood:
32	chr7:56032680..56034503-chr7:56061910..56064537,2	K562	blood:
33	chr7:56056696..56058990-chr7:56060045..56061813,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS17-1	chr7:56060639-56061616	ENSG00000245903

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PSPH	hsa-miR-122-5p	chr7:56079433-56079454
2	GBAS	hsa-miR-373-3p	chr7:56067001-56067025
3	GBAS	hsa-miR-373-3p	chr7:56067445-56067465
4	GBAS	hsa-miR-132-3p	chr7:56067693-56067713
5	GBAS	hsa-miR-24-3p	chr7:56066999-56067021

Variant related genes	Relation type
ENSG00000146729	chromatin interactions
ENSG00000238673	chromatin interactions
ENSG00000207168	chromatin interactions
ENSG00000146733	chromatin interactions
ENSG00000146731	chromatin interactions
ENSG00000129103	chromatin interactions
CPEB2	miRNA target sites

Extended variants
information (count: 1996 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1996 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552020571	chr7:56051287-56051288	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570267199	chr7:56051288-56051289	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530990766	chr7:56051305-56051306	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549191454	chr7:56051306-56051307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191812918	chr7:56051349-56051350	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565391539	chr7:56051354-56051355	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534830958	chr7:56051389-56051390	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76044047	chr7:56051405-56051406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183420133	chr7:56051416-56051417	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538674610	chr7:56051427-56051428	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201857257	chr7:56051449-56051450	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141886054	chr7:56051480-56051481	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369625283	chr7:56051522-56051523	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373243220	chr7:56051538-56051539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576432730	chr7:56051564-56051565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150298305	chr7:56051672-56051673	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs66741868	chr7:56051673-56051674	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60298274	chr7:56051691-56051692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201368231	chr7:56051692-56051693	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202092196	chr7:56051694-56051695	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs67861084	chr7:56051710-56051711	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs68088835	chr7:56051713-56051714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529926669	chr7:56051740-56051741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543641654	chr7:56051750-56051751	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187559705	chr7:56051794-56051795	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573892637	chr7:56051803-56051804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75732486	chr7:56051815-56051816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397720076	chr7:56051816-56051817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541076430	chr7:56051845-56051846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559202298	chr7:56051944-56051945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191299864	chr7:56052052-56052053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60007968	chr7:56052083-56052084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563983552	chr7:56052089-56052090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563941911	chr7:56052115-56052116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34719521	chr7:56052118-56052119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111404615	chr7:56052143-56052144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183530102	chr7:56052235-56052236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187080415	chr7:56052243-56052244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192778129	chr7:56052263-56052264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571685011	chr7:56052277-56052278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539302336	chr7:56052283-56052284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539001799	chr7:56052287-56052288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184806404	chr7:56052288-56052289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56220315	chr7:56052315-56052316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142371192	chr7:56052334-56052335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537305110	chr7:56052337-56052338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555705572	chr7:56052342-56052343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551734864	chr7:56052344-56052345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548255348	chr7:56052411-56052412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397889648	chr7:56052412-56052413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
Esophageal squamous carcinoma	21637470	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:1166 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:56033800-56063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56033800-56065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:56039400-56062400	Weak transcription	Stomach Mucosa	stomach
6	chr7:56044000-56053200	Strong transcription	Primary T cells from cord blood	blood
7	chr7:56045000-56067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:56045200-56068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:56045400-56051600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:56045400-56054000	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:56045400-56054000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:56045400-56055000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:56045400-56057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:56045400-56057400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:56045400-56057600	Strong transcription	Dnd41	blood
16	chr7:56045400-56059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:56045400-56067000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:56045400-56067000	Strong transcription	Liver	Liver
19	chr7:56045400-56067200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:56045400-56067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:56045600-56051600	Strong transcription	HepG2	liver
22	chr7:56045600-56053000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:56045600-56053200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:56045600-56053600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr7:56045600-56053800	Strong transcription	Left Ventricle	heart
26	chr7:56045600-56054000	Strong transcription	Placenta	Placenta
27	chr7:56045600-56054400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:56045600-56054400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:56045600-56056400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:56045600-56056800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:56045600-56057400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:56045600-56057600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:56045600-56062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:56045600-56066600	Strong transcription	Fetal Stomach	stomach
35	chr7:56045600-56067400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:56045600-56067400	Strong transcription	Fetal Intestine Large	intestine
37	chr7:56045800-56051600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:56045800-56053200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr7:56045800-56053400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:56045800-56053800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:56045800-56054400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:56045800-56055000	Strong transcription	Fetal Thymus	thymus
43	chr7:56045800-56056400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:56045800-56057400	Strong transcription	Adipose Nuclei	Adipose
45	chr7:56045800-56057400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:56045800-56057600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:56045800-56057600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:56045800-56066800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:56045800-56068000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:56046000-56054400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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