Variant report

Variant	esv3495963
Chromosome Location	chr12:34098787-34109073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:34098184..34100062-chr12:60091369..60093533,4	MCF-7	breast:
2	chr12:34095993..34098950-chr12:34112537..34115292,2	MCF-7	breast:
3	chr12:34098748..34102292-chr12:49653830..49659564,5	MCF-7	breast:
4	chr12:34097991..34100054-chr12:60091596..60093323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73103090	chr12:34098801-34098802	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187812891	chr12:34098802-34098803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567451589	chr12:34098839-34098840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542344003	chr12:34098840-34098841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529040492	chr12:34098841-34098842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575643400	chr12:34098902-34098903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372359828	chr12:34098969-34098970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376871150	chr12:34098970-34098971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371476629	chr12:34099004-34099005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12300441	chr12:34099011-34099012	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550770110	chr12:34099024-34099025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532297707	chr12:34099038-34099039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151329511	chr12:34099132-34099133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569029896	chr12:34099133-34099134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528225336	chr12:34099174-34099175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191446525	chr12:34099180-34099181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568181921	chr12:34099181-34099182	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530499699	chr12:34099189-34099190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11053013	chr12:34099190-34099191	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183981418	chr12:34099191-34099192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77221465	chr12:34099233-34099234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553654141	chr12:34099286-34099287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567165568	chr12:34099330-34099331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566455135	chr12:34099337-34099338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555668723	chr12:34099380-34099381	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188559386	chr12:34099419-34099420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11837985	chr12:34099423-34099424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140587708	chr12:34099505-34099506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577575289	chr12:34099523-34099524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545696785	chr12:34099524-34099525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs57401997	chr12:34099551-34099552	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576263114	chr12:34099568-34099569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573796012	chr12:34099615-34099616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10844751	chr12:34099651-34099652	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76143576	chr12:34099665-34099666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75420451	chr12:34099668-34099669	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561702985	chr12:34099671-34099672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530644896	chr12:34099698-34099699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184390955	chr12:34099760-34099761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564072502	chr12:34099793-34099794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs147474146	chr12:34099800-34099801	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533002137	chr12:34099805-34099806	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190271725	chr12:34099818-34099819	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372641780	chr12:34099854-34099855	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182293142	chr12:34099855-34099856	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1483732	chr12:34099870-34099871	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545671542	chr12:34099877-34099878	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs716213	chr12:34099883-34099884	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541130904	chr12:34099910-34099911	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538347946	chr12:34099961-34099962	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34093800-34130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:34098600-34098800	Enhancers	Liver	Liver
3	chr12:34099800-34100000	ZNF genes & repeats	Psoas Muscle	Psoas

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