Variant report

Variant	esv33252
Chromosome Location	chr10:43183818-43186472
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	chr10:43179370..43182447-chr10:43184174..43186310,3	MCF-7	breast:
2	chr10:43132526..43135261-chr10:43184647..43186574,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-1	chr10:43186181-43186249	NONHSAT139966

Variant related genes	Relation type
ENSG00000272373	chromatin interactions
ENSG00000196693	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371101630	chr10:43183891-43183892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547464911	chr10:43183893-43183894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565677845	chr10:43183894-43183895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539602566	chr10:43183906-43183907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185592771	chr10:43183909-43183910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569533147	chr10:43183916-43183917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536909432	chr10:43183968-43183969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555253711	chr10:43183971-43183972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573655053	chr10:43183977-43183978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71505639	chr10:43183986-43183987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183493434	chr10:43184005-43184006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386743138	chr10:43184030-43184031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114796990	chr10:43184031-43184032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150526925	chr10:43184042-43184043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568273147	chr10:43184056-43184057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535381023	chr10:43184067-43184068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374579222	chr10:43184109-43184110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561614218	chr10:43184146-43184147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528885422	chr10:43184163-43184164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112409437	chr10:43184171-43184172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35689174	chr10:43184172-43184173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186762969	chr10:43184184-43184185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58116228	chr10:43184186-43184187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565743959	chr10:43184198-43184199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569213852	chr10:43184201-43184202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532858392	chr10:43184217-43184218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192283733	chr10:43184263-43184264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538086741	chr10:43184311-43184312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569469129	chr10:43184313-43184314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184069676	chr10:43184314-43184315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555243194	chr10:43184365-43184366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186608548	chr10:43184366-43184367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35523473	chr10:43184379-43184380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28540499	chr10:43184401-43184402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2473113	chr10:43184429-43184430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs553121729	chr10:43184435-43184436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138593255	chr10:43184437-43184438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386743139	chr10:43184514-43184515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs485894	chr10:43184515-43184516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575905222	chr10:43184531-43184532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142779944	chr10:43184536-43184537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561548200	chr10:43184578-43184579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573605189	chr10:43184585-43184586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540941455	chr10:43184600-43184601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559048851	chr10:43184601-43184602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28579832	chr10:43184603-43184604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551145209	chr10:43184642-43184643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563093199	chr10:43184644-43184645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147443163	chr10:43184667-43184668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548802590	chr10:43184690-43184691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43182800-43184200	Enhancers	Stomach Mucosa	stomach
2	chr10:43183800-43184000	Enhancers	K562	blood
3	chr10:43183800-43184200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:43184000-43185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:43184400-43185000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr10:43184400-43185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43184600-43185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:43184600-43185600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:43184600-43185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:43185600-43186200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:43185600-43186600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43185800-43186200	Enhancers	Pancreas	Pancrea
13	chr10:43186200-43190400	Weak transcription	Pancreas	Pancrea

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