Variant report

Variant	esv3343995
Chromosome Location	chr12:48974880-49013072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48848169..48849119-chr12:49012033..49012563,2	MCF-7	breast:
2	chr12:48939599..48941827-chr12:49010095..49012004,2	MCF-7	breast:
3	chr12:48935680..48937116-chr12:49011674..49012886,17	MCF-7	breast:
4	chr12:48935790..48936824-chr12:49011913..49012916,27	K562	blood:
5	chr12:48931273..48933228-chr12:49012500..49014715,2	K562	blood:
6	chr12:48934973..48936541-chr12:49010116..49012626,2	MCF-7	breast:
7	chr12:48644481..48645005-chr12:49012003..49012839,2	MCF-7	breast:
8	chr12:49002889..49004650-chr12:49015713..49017290,2	K562	blood:
9	chr12:48990947..48992808-chr12:48993026..48996217,3	K562	blood:
10	chr12:48934471..48935404-chr12:49011968..49012486,2	K562	blood:
11	chr12:48990947..48992808-chr12:48993026..48996217,3	K562	blood:
12	chr12:48976531..48979311-chr12:48980919..48983829,2	K562	blood:
13	chr12:48993858..48996533-chr12:49205420..49207129,2	K562	blood:
14	chr12:48936113..48936998-chr12:49012151..49012777,3	MCF-7	breast:
15	chr12:48976531..48979311-chr12:48980919..48983829,2	K562	blood:

No data

Extended variants
information (count: 501 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34141771	chr12:48974893-48974894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78382396	chr12:48974911-48974912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78305460	chr12:48974912-48974913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184850263	chr12:48974923-48974924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2712614	chr12:48974925-48974926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11831765	chr12:48974979-48974980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113027808	chr12:48975015-48975016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569941725	chr12:48975094-48975095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189262468	chr12:48975134-48975135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181532907	chr12:48975138-48975139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146330834	chr12:48975155-48975156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563871136	chr12:48975209-48975210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373141181	chr12:48975236-48975237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186483183	chr12:48975244-48975245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554189046	chr12:48975260-48975261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547868081	chr12:48975268-48975269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564427211	chr12:48975278-48975279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533323564	chr12:48975281-48975282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549927851	chr12:48975286-48975287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569742653	chr12:48975309-48975310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537732805	chr12:48975318-48975319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374919050	chr12:48975327-48975328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7305017	chr12:48975347-48975348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533748813	chr12:48975396-48975397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189349267	chr12:48975441-48975442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536341238	chr12:48975494-48975495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565881655	chr12:48975495-48975496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570471688	chr12:48975497-48975498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539393972	chr12:48975501-48975502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180908695	chr12:48975518-48975519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117384204	chr12:48975536-48975537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75922439	chr12:48975679-48975680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542532108	chr12:48975683-48975684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549013238	chr12:48975770-48975771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541215684	chr12:48979010-48979011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184357518	chr12:48979035-48979036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74087272	chr12:48979062-48979063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530473482	chr12:48979139-48979140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550818557	chr12:48979177-48979178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374063482	chr12:48979179-48979180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12812377	chr12:48980227-48980228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568499428	chr12:48980249-48980250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536538928	chr12:48980259-48980260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553040030	chr12:48980293-48980294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142781492	chr12:48980337-48980338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572947370	chr12:48980353-48980354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538464761	chr12:48980378-48980379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558199344	chr12:48980389-48980390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545616714	chr12:48980414-48980415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575019706	chr12:48980422-48980423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48974000-48975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:48974000-48975200	Enhancers	NHEK	skin
3	chr12:48974000-48975800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:48974200-48975200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:48974400-48975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:48975000-48975400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48975400-48975800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:48979000-48979200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:48980200-48980800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48986400-48986800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:48991600-48991800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr12:48991800-48994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:48993000-48995400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48993000-48996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:48993600-48995400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:48993800-48995000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:48994000-48994600	Enhancers	GM12878-XiMat	blood
18	chr12:48994000-48995600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:48994000-48995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:48994200-48995400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr12:48994200-48995600	Enhancers	K562	blood
22	chr12:48994400-48995200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:48994400-48995400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:48994400-48995600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:48994400-48995600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:48994400-48995600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:48994600-48995200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:48994600-48995400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:48994600-48995600	Flanking Active TSS	GM12878-XiMat	blood
30	chr12:48994800-48995200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:48994800-48995600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:48995000-48996000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr12:48995000-48996000	Enhancers	NHEK	skin
34	chr12:48995000-48996800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr12:48995200-48996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:48995400-48996200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:48995600-48995800	Enhancers	GM12878-XiMat	blood
38	chr12:48995600-48996000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:48995600-48997000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr12:48995800-48996200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:48995800-48996600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr12:48996000-48996200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:48996000-48996600	ZNF genes & repeats	NHEK	skin
44	chr12:48996000-48997000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:48996000-48998800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:48996200-48996400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:48996200-48997200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr12:48996200-48997200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:49009000-49009200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:49009200-49014000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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