Variant report

Variant	esv3333624
Chromosome Location	chr7:108224566-108226814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108225047..108227577-chr7:108235329..108237034,2	K562	blood:
2	chr7:108213141..108217464-chr7:108225107..108230596,8	K562	blood:
3	chr7:108208678..108213209-chr7:108221892..108226681,7	MCF-7	breast:
4	chr7:108221854..108223398-chr7:108224330..108226111,2	MCF-7	breast:
5	chr7:108209187..108211105-chr7:108226580..108228529,2	K562	blood:

Variant related genes	Relation type
ENSG00000177683	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000128590	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55963129	chr7:108224568-108224569	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57046095	chr7:108224574-108224575	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56262432	chr7:108224580-108224581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575057522	chr7:108224583-108224584	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs527802262	chr7:108224590-108224591	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34383339	chr7:108224597-108224598	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs35322422	chr7:108224614-108224615	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117521464	chr7:108224671-108224672	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs192824942	chr7:108224678-108224679	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551630117	chr7:108224693-108224694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550354379	chr7:108224708-108224709	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs151244247	chr7:108224740-108224741	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570265088	chr7:108224741-108224742	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs56953788	chr7:108224749-108224750	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs532807452	chr7:108224781-108224782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551909512	chr7:108224811-108224812	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59908458	chr7:108224818-108224819	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs57494246	chr7:108224922-108224923	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145594161	chr7:108224923-108224924	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553919255	chr7:108224932-108224933	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567811599	chr7:108224944-108224945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536850571	chr7:108224985-108224986	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs557078123	chr7:108224992-108224993	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs577078213	chr7:108224993-108224994	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs58052113	chr7:108225006-108225007	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17426315	chr7:108225047-108225048	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs150658730	chr7:108225071-108225072	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs541424556	chr7:108225140-108225141	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140009729	chr7:108225144-108225145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs574947211	chr7:108225148-108225149	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs544048152	chr7:108225151-108225152	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563879652	chr7:108225152-108225153	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532576984	chr7:108225170-108225171	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs376857773	chr7:108225330-108225331	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs552869024	chr7:108225348-108225349	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141025367	chr7:108225351-108225352	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs184517335	chr7:108225410-108225411	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs528122369	chr7:108225504-108225505	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs149839551	chr7:108225510-108225511	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371901682	chr7:108225542-108225543	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs545322025	chr7:108225544-108225545	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547736410	chr7:108225554-108225555	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs13308284	chr7:108225555-108225556	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs13308619	chr7:108225563-108225564	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374440199	chr7:108225578-108225579	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs117192259	chr7:108225582-108225583	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12531224	chr7:108225584-108225585	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs6969166	chr7:108225592-108225593	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200097353	chr7:108225597-108225598	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs200600426	chr7:108225598-108225599	Weak transcription	Chromatin interactive region	3 gene(s)	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
Chordoma	21215367	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108214400-108225000	Weak transcription	Fetal Brain Male	brain
2	chr7:108216200-108224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:108216400-108229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:108216800-108224600	Weak transcription	NHEK	skin
5	chr7:108220600-108224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:108221000-108224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:108221000-108229000	Weak transcription	Right Ventricle	heart
8	chr7:108221200-108226200	Weak transcription	Right Atrium	heart
9	chr7:108221200-108229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:108222200-108225000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:108223000-108224600	Weak transcription	HMEC	breast
12	chr7:108223000-108225000	Weak transcription	Fetal Heart	heart
13	chr7:108223000-108233200	Weak transcription	Small Intestine	intestine
14	chr7:108224600-108224800	Enhancers	HSMM	muscle
15	chr7:108224600-108224800	Enhancers	NHEK	skin
16	chr7:108224600-108225000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:108224600-108225000	Enhancers	HMEC	breast
18	chr7:108224600-108225200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:108224800-108225000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:108224800-108225000	Enhancers	NH-A	brain
21	chr7:108224800-108225800	Weak transcription	NHEK	skin
22	chr7:108225000-108225200	Enhancers	Fetal Heart	heart
23	chr7:108225000-108230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:108225200-108225600	Weak transcription	Fetal Heart	heart
25	chr7:108225200-108229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:108225600-108227200	Enhancers	Fetal Heart	heart
27	chr7:108226200-108226800	Active TSS	Right Atrium	heart
28	chr7:108226200-108227000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:108226200-108227600	Enhancers	K562	blood
30	chr7:108226800-108230400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links