Variant report

Variant	esv3344310
Chromosome Location	chr7:109744550-109770063
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:
2	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:
3	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:
4	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMMP2L-6	chr7:109748142-109748387	NONHSAT122759
2	lnc-IMMP2L-6	chr7:109750710-109750732	NONHSAT122759

No data

Extended variants
information (count: 1111 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1111 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542196078	chr7:109744554-109744555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60019161	chr7:109744564-109744565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190320332	chr7:109744604-109744605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56120204	chr7:109744627-109744628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78094581	chr7:109744650-109744651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570981240	chr7:109744666-109744667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55893077	chr7:109744725-109744726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533554464	chr7:109744837-109744838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547364044	chr7:109744864-109744865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12538911	chr7:109744869-109744870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182491218	chr7:109744871-109744872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555763071	chr7:109744886-109744887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568918862	chr7:109744887-109744888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184338092	chr7:109744888-109744889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80011336	chr7:109744904-109744905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557678137	chr7:109744921-109744922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77169801	chr7:109744927-109744928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540037195	chr7:109744932-109744933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2711325	chr7:109744942-109744943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115694080	chr7:109744951-109744952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542232515	chr7:109744967-109744968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562456389	chr7:109744970-109744971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543220921	chr7:109744978-109744979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189614981	chr7:109745010-109745011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180865094	chr7:109745044-109745045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528935651	chr7:109745051-109745052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185268414	chr7:109745072-109745073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141253874	chr7:109745091-109745092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73199886	chr7:109745102-109745103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532812301	chr7:109745106-109745107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531358317	chr7:109745138-109745139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190183598	chr7:109745143-109745144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552437360	chr7:109745157-109745158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553912544	chr7:109745160-109745161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529584934	chr7:109745161-109745162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12533760	chr7:109745209-109745210	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111354145	chr7:109745210-109745211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537842752	chr7:109745211-109745212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550058827	chr7:109745254-109745255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551900078	chr7:109745280-109745281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181409277	chr7:109745307-109745308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185983807	chr7:109745332-109745333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75746933	chr7:109745362-109745363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573599381	chr7:109745372-109745373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536099709	chr7:109745378-109745379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556172324	chr7:109745457-109745458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562732784	chr7:109745461-109745462	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568645512	chr7:109745502-109745503	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191960920	chr7:109745504-109745505	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565025965	chr7:109745508-109745509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109739200-109755800	Weak transcription	Dnd41	blood
2	chr7:109744200-109745400	Enhancers	Brain Germinal Matrix	brain
3	chr7:109745200-109745800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:109745200-109746000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:109745400-109745600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr7:109745400-109745800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:109745400-109746000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:109745400-109746200	Enhancers	HMEC	breast
9	chr7:109745400-109746600	Enhancers	NHEK	skin
10	chr7:109745600-109745800	Active TSS	Brain Germinal Matrix	brain
11	chr7:109746000-109747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:109746200-109747200	Weak transcription	HMEC	breast
13	chr7:109746600-109748400	Weak transcription	NHEK	skin
14	chr7:109747000-109749000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:109747200-109747400	Enhancers	HMEC	breast
16	chr7:109748400-109748800	Enhancers	NHEK	skin
17	chr7:109755800-109756400	Strong transcription	Dnd41	blood
18	chr7:109756400-109766600	Weak transcription	Dnd41	blood
19	chr7:109758400-109760200	Enhancers	Brain Germinal Matrix	brain
20	chr7:109759400-109759600	Enhancers	Pancreas	Pancrea
21	chr7:109759600-109768000	Weak transcription	Pancreas	Pancrea
22	chr7:109759800-109760200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:109767800-109768400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:109767800-109768600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:109768000-109768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:109768000-109768200	Enhancers	Pancreas	Pancrea
27	chr7:109768000-109768400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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