Variant report

Variant	esv3409151
Chromosome Location	chr10:54146146-54148144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54145859..54147775-chr10:54203869..54205399,2	MCF-7	breast:
2	chr10:54073525..54075924-chr10:54146848..54149629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236671	chromatin interactions
ENSG00000107984	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79343283	chr10:54146269-54146270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193283397	chr10:54146270-54146271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183322688	chr10:54146305-54146306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11818311	chr10:54146317-54146318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144096590	chr10:54146353-54146354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74884305	chr10:54146354-54146355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75027834	chr10:54146373-54146374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569112381	chr10:54146445-54146446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538023360	chr10:54146449-54146450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187669301	chr10:54146480-54146481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568645947	chr10:54146557-54146558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534228133	chr10:54146560-54146561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532087836	chr10:54146572-54146573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370749074	chr10:54146575-54146576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553875252	chr10:54146577-54146578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577307129	chr10:54146578-54146579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150185068	chr10:54146590-54146591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192159472	chr10:54146651-54146652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575532392	chr10:54146663-54146664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74133323	chr10:54146690-54146691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374592681	chr10:54146708-54146709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529923482	chr10:54146812-54146813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1194615	chr10:54146839-54146840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559903352	chr10:54146903-54146904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72095913	chr10:54146909-54146910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs60629311	chr10:54146915-54146916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531934732	chr10:54146948-54146949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184370394	chr10:54147001-54147002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568580156	chr10:54147042-54147043	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549100090	chr10:54147047-54147048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111875723	chr10:54147048-54147049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113334136	chr10:54147058-54147059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548475513	chr10:54147090-54147091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138728476	chr10:54147208-54147209	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192609027	chr10:54147257-54147258	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548054157	chr10:54147265-54147266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs554403305	chr10:54147286-54147287	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184588878	chr10:54147295-54147296	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189106883	chr10:54147310-54147311	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75937797	chr10:54147322-54147323	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576594020	chr10:54147343-54147344	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182005694	chr10:54147387-54147388	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186250749	chr10:54147389-54147390	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574536425	chr10:54147416-54147417	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540159635	chr10:54147529-54147530	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541584571	chr10:54147598-54147599	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560367307	chr10:54147654-54147655	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149372862	chr10:54147671-54147672	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189149658	chr10:54147745-54147746	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562273517	chr10:54147762-54147763	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54143200-54147400	Weak transcription	A549	lung
2	chr10:54145400-54147400	Weak transcription	HSMM	muscle
3	chr10:54146400-54148400	Enhancers	HUVEC	blood vessel
4	chr10:54146400-54149200	Enhancers	HMEC	breast
5	chr10:54147200-54148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:54147200-54148600	Enhancers	NHEK	skin
7	chr10:54147400-54147800	Enhancers	A549	lung
8	chr10:54147400-54147800	Enhancers	HSMM	muscle
9	chr10:54147400-54148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:54147400-54148600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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