Variant report

Variant	esv2762976
Chromosome Location	chr12:44969431-45000228
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	chr12:44969862..44971454-chr12:45054556..45057054,2	MCF-7	breast:

Extended variants
information (count: 1159 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547089209	chr12:44969448-44969449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564831208	chr12:44969449-44969450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191654786	chr12:44969497-44969498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550613256	chr12:44969528-44969529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376263008	chr12:44969558-44969559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115265553	chr12:44969642-44969643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114414739	chr12:44969716-44969717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549207845	chr12:44969726-44969727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145677779	chr12:44969797-44969798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75494549	chr12:44969816-44969817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568697597	chr12:44969861-44969862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4768559	chr12:44969914-44969915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs57792241	chr12:44969931-44969932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538678740	chr12:44969969-44969970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4768560	chr12:44969971-44969972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147741417	chr12:44970018-44970019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141156338	chr12:44970040-44970041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184462111	chr12:44970041-44970042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17094809	chr12:44970068-44970069	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147599775	chr12:44970069-44970070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540488931	chr12:44970103-44970104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140782879	chr12:44970123-44970124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61930833	chr12:44970166-44970167	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376741600	chr12:44970167-44970168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577712906	chr12:44970169-44970170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562596537	chr12:44970214-44970215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34657455	chr12:44970279-44970280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7134690	chr12:44970292-44970293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111804043	chr12:44970325-44970326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547885461	chr12:44970326-44970327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567479996	chr12:44970328-44970329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200097863	chr12:44970337-44970338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150102607	chr12:44970382-44970383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138603948	chr12:44970391-44970392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571874754	chr12:44970395-44970396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545028358	chr12:44970403-44970404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557114871	chr12:44970404-44970405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7304676	chr12:44970421-44970422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536300540	chr12:44970422-44970423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555107862	chr12:44970438-44970439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573037365	chr12:44970473-44970474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540464204	chr12:44970552-44970553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558877777	chr12:44970563-44970564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35266155	chr12:44970574-44970575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544193602	chr12:44970592-44970593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7304914	chr12:44970636-44970637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529702618	chr12:44970662-44970663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541490311	chr12:44970780-44970781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559837265	chr12:44970868-44970869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12818894	chr12:44970869-44970870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	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
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:44946400-44976400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44954400-44970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:44965200-44976000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:44965400-44975800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:44965600-44975600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:44969000-44971600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:44969200-44970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:44970000-44970200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:44970200-44976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:44971400-44972000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:44971600-44972000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:44971600-44973000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:44971600-44973200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:44971800-44973200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:44971800-44973400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:44971800-44973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:44972000-44976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:44972000-44976000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:44972200-44973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:44972200-44973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:44972200-44975200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:44973000-44974800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:44973200-44974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:44973200-44974800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:44973400-44974600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:44973400-44976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:44973600-44974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:44973600-44974800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:44973800-44974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:44974000-44976000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:44974200-44975400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:44974600-44975400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:44974600-44975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:44974800-44975200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:44974800-44975400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:44974800-44977000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:44975200-44976000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:44975200-44976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:44975400-44975800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:44975400-44976200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:44975400-44976600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:44975400-44976800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:44975600-44976200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:44975600-44977400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:44975600-44977400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:44975800-44976200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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