Variant report

Variant	esv1004681
Chromosome Location	chr12:33381204-33400363
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	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
2	chr12:33389850..33391877-chr17:56707852..56709552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193284516	chr12:33389880-33389881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564780931	chr12:33389887-33389888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545989777	chr12:33389908-33389909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184228265	chr12:33389917-33389918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77956513	chr12:33389931-33389932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547199081	chr12:33389965-33389966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139919354	chr12:33389980-33389981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76851494	chr12:33389983-33389984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61927443	chr12:33390028-33390029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550590899	chr12:33390067-33390068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145344670	chr12:33390091-33390092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532846304	chr12:33390273-33390274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548002312	chr12:33390304-33390305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547174541	chr12:33390306-33390307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566922171	chr12:33390353-33390354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186875583	chr12:33390448-33390449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536655235	chr12:33390449-33390450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191659606	chr12:33390467-33390468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35067262	chr12:33390476-33390477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184203780	chr12:33390525-33390526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113352461	chr12:33390548-33390549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576771877	chr12:33390568-33390569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556222167	chr12:33390715-33390716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569183956	chr12:33390799-33390800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188891478	chr12:33390819-33390820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557692298	chr12:33390835-33390836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147695588	chr12:33390839-33390840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369591470	chr12:33390991-33390992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540343399	chr12:33391028-33391029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553149250	chr12:33391031-33391032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7137647	chr12:33391055-33391056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534585572	chr12:33391133-33391134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572989787	chr12:33391177-33391178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61927444	chr12:33391190-33391191	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562010870	chr12:33391310-33391311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530816821	chr12:33391316-33391317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544234400	chr12:33391446-33391447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142381642	chr12:33391535-33391536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533067827	chr12:33391613-33391614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546342232	chr12:33391733-33391734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560174096	chr12:33391735-33391736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529488596	chr12:33391758-33391759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549158834	chr12:33391830-33391831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559431583	chr12:33398419-33398420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200764456	chr12:33398440-33398441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573134519	chr12:33398459-33398460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541850061	chr12:33398485-33398486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561640628	chr12:33398497-33398498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558877650	chr12:33398513-33398514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151269253	chr12:33398526-33398527	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon
2	chr12:33399200-33400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33400000-33402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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