Variant report

Variant	esv3358359
Chromosome Location	chr12:124314599-124318997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124314772-124314780	HepG2	liver:	n/a	n/a
2	ATF1	chr12:124316625-124316924	K562	blood:	n/a	n/a
3	MXI1	chr12:124316645-124316925	K562	blood:	n/a	n/a
4	STAT3	chr12:124317400-124317600	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF274	chr12:124315297-124315509	NT2-D1	testis:	n/a	n/a
6	ZNF274	chr12:124314970-124315941	K562	blood:	n/a	n/a
7	ZNF274	chr12:124315250-124315536	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124317374..124319262-chr12:124456519..124458438,3	MCF-7	breast:
2	chr12:124316592..124319347-chr12:124325375..124326955,2	K562	blood:
3	chr12:124312941..124315682-chr12:124321036..124323977,2	K562	blood:
4	chr12:124317067..124318051-chr12:124325149..124326055,2	K562	blood:

No data

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000119242	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000178882	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187543666	chr12:124314615-124314616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566915992	chr12:124314617-124314618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148905670	chr12:124314625-124314626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546944349	chr12:124314632-124314633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571453234	chr12:124314692-124314693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192481293	chr12:124314703-124314704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557141473	chr12:124314716-124314717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568812217	chr12:124314740-124314741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536355722	chr12:124314743-124314744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554133158	chr12:124314746-124314747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572548455	chr12:124314748-124314749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540499689	chr12:124314752-124314753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558855903	chr12:124314778-124314779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142747733	chr12:124314813-124314814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544435104	chr12:124314814-124314815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550151698	chr12:124314861-124314862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563108167	chr12:124314865-124314866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538045226	chr12:124314871-124314872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368891298	chr12:124314877-124314878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566933482	chr12:124314880-124314881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536095787	chr12:124314903-124314904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201139509	chr12:124314926-124314927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530129985	chr12:124314972-124314973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542359327	chr12:124314977-124314978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556244931	chr12:124315026-124315027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527721377	chr12:124315027-124315028	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs151048989	chr12:124315038-124315039	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567128418	chr12:124315039-124315040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs371307774	chr12:124315090-124315091	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571538804	chr12:124315129-124315130	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140985648	chr12:124315141-124315142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs185091217	chr12:124315142-124315143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs372606019	chr12:124315147-124315148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375524218	chr12:124315153-124315154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs368042957	chr12:124315164-124315165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371490353	chr12:124315171-124315172	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs150228824	chr12:124315196-124315197	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535961779	chr12:124315209-124315210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374791083	chr12:124315240-124315241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554269908	chr12:124315246-124315247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs553207799	chr12:124315328-124315329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372606156	chr12:124315342-124315343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376586194	chr12:124315343-124315344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375001674	chr12:124315360-124315361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369965227	chr12:124315366-124315367	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs78923729	chr12:124315444-124315445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147924817	chr12:124315459-124315460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs578144563	chr12:124315524-124315525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs189075432	chr12:124315555-124315556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575007517	chr12:124315573-124315574	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124312600-124317400	Weak transcription	Fetal Brain Female	brain
2	chr12:124313400-124314600	Flanking Active TSS	HepG2	liver
3	chr12:124314000-124314600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:124314600-124315200	Enhancers	HepG2	liver
5	chr12:124314600-124319400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:124315000-124318000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links