Variant report

Variant	esv2502104
Chromosome Location	chr7:110180561-110188742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
2	chr4:4482219..4482825-chr7:110184645..110185165,2	MCF-7	breast:
3	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
4	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:

Extended variants
information (count: 263 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529049206	chr7:110180631-110180632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564390834	chr7:110180660-110180661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13221425	chr7:110180703-110180704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138820293	chr7:110180707-110180708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186220337	chr7:110180710-110180711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551548933	chr7:110180726-110180727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142944706	chr7:110180745-110180746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554607326	chr7:110180761-110180762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374799822	chr7:110180808-110180809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533782178	chr7:110180849-110180850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144614546	chr7:110180905-110180906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553660067	chr7:110180970-110180971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567178277	chr7:110181020-110181021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10238549	chr7:110181022-110181023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs386716816	chr7:110181077-110181078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568135113	chr7:110181111-110181112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373536248	chr7:110181144-110181145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148470812	chr7:110181211-110181212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575940598	chr7:110181277-110181278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575793576	chr7:110181282-110181283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13237799	chr7:110181324-110181325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557837373	chr7:110181353-110181354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554084625	chr7:110181360-110181361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544592516	chr7:110181425-110181426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191512900	chr7:110181432-110181433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540252704	chr7:110181442-110181443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559981779	chr7:110181456-110181457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545461726	chr7:110181465-110181466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35083525	chr7:110181474-110181475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542585263	chr7:110181475-110181476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562700550	chr7:110181507-110181508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76634221	chr7:110181527-110181528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563773132	chr7:110181548-110181549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547091875	chr7:110181549-110181550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571371085	chr7:110181592-110181593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527254140	chr7:110181611-110181612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547398358	chr7:110181649-110181650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565294862	chr7:110181724-110181725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567176626	chr7:110181742-110181743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536140806	chr7:110181755-110181756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539060746	chr7:110181783-110181784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555825373	chr7:110181851-110181852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55757343	chr7:110181886-110181887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56378419	chr7:110181887-110181888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183340913	chr7:110181899-110181900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558797358	chr7:110181910-110181911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577916268	chr7:110181914-110181915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79758968	chr7:110181915-110181916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142518422	chr7:110181916-110181917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150631277	chr7:110181931-110181932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:110176200-110181000	Weak transcription	NHEK	skin
4	chr7:110180200-110180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:110180400-110183200	Enhancers	HMEC	breast
6	chr7:110180600-110180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:110180800-110182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:110181000-110184600	Enhancers	NHEK	skin
9	chr7:110181400-110183200	Enhancers	NHLF	lung
10	chr7:110182000-110182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:110182600-110182800	Enhancers	NH-A	brain
12	chr7:110182600-110183200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:110182600-110184200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:110182800-110183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:110182800-110183800	Weak transcription	NH-A	brain
17	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:110183200-110183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:110183200-110183800	Weak transcription	HMEC	breast
20	chr7:110183200-110184000	Weak transcription	NHLF	lung
21	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:110183800-110184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:110183800-110184400	Enhancers	HMEC	breast
24	chr7:110183800-110184400	Enhancers	NH-A	brain
25	chr7:110184000-110184200	Enhancers	NHLF	lung
26	chr7:110184200-110184600	Enhancers	Fetal Stomach	stomach
27	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:110184400-110188600	Weak transcription	HMEC	breast
29	chr7:110184600-110188000	Weak transcription	NHEK	skin
30	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:110188000-110189200	Enhancers	NHEK	skin
34	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:110188600-110189000	Enhancers	HMEC	breast

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