Variant report

Variant	esv3500907
Chromosome Location	chr12:105370222-105374820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:105370588-105370772	ProgFib	skin:	n/a	n/a
2	CTCF	chr12:105370360-105370510	RPTEC	kidney:	n/a	n/a
3	CTCF	chr12:105370627-105370721	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr12:105370501-105370838	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:105370553-105370805	A549	lung:	n/a	n/a
6	CTCF	chr12:105370577-105370766	A549	lung:	n/a	n/a
7	CTCF	chr12:105370660-105370810	GM12874	blood:	n/a	n/a
8	CTCF	chr12:105370579-105370773	Fibrobl	skin:	n/a	n/a
9	CTCF	chr12:105370560-105370710	GM12878	blood:	n/a	n/a
10	CTCF	chr12:105370641-105370731	GM19240	blood:	n/a	n/a
11	CTCF	chr12:105370680-105370830	WI-38	lung:	n/a	n/a
12	CTCF	chr12:105370552-105370784	K562	blood:	n/a	n/a
13	CTCF	chr12:105370620-105370770	GM12873	blood:	n/a	n/a
14	CTCF	chr12:105370583-105370812	A549	lung:	n/a	n/a
15	CTCF	chr12:105370640-105370790	HEK293	kidney:	n/a	n/a
16	CTCF	chr12:105370640-105370790	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr12:105370660-105370810	BJ	skin:	n/a	n/a
18	CTCF	chr12:105370560-105370710	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr12:105370633-105370719	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:105370584-105370785	A549	lung:	n/a	n/a
21	CTCF	chr12:105370669-105370699	LNCaP	prostate:	n/a	n/a
22	CTCF	chr12:105370607-105370761	Gliobla	brain:	n/a	n/a
23	CTCF	chr12:105370600-105370750	NB4	blood:	n/a	n/a
24	CTCF	chr12:105370488-105370860	K562	blood:	n/a	n/a
25	CTCF	chr12:105370540-105370690	SAEC	small airway:	n/a	n/a
26	CTCF	chr12:105370560-105370710	AG09319	gingival:	n/a	n/a
27	CTCF	chr12:105370540-105370690	HMF	breast:	n/a	n/a
28	CTCF	chr12:105370676-105370707	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:105370640-105370790	K562	blood:	n/a	n/a
30	CTCF	chr12:105370660-105370810	HMEC	breast:	n/a	n/a
31	CTCF	chr12:105370644-105370708	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:105370660-105370810	NHEK	skin:	n/a	n/a
33	CTCF	chr12:105370500-105370650	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr12:105370568-105370720	GM12891	blood:	n/a	n/a
35	CTCF	chr12:105370576-105370767	NHEK	skin:	n/a	n/a
36	CTCF	chr12:105370565-105370790	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:105370680-105370830	A549	lung:	n/a	n/a
38	CTCF	chr12:105370540-105370690	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr12:105370605-105370737	GM12878	blood:	n/a	n/a
40	CTCF	chr12:105370486-105370793	K562	blood:	n/a	n/a
41	CTCF	chr12:105370645-105370684	GM19238	blood:	n/a	n/a
42	CTCF	chr12:105370465-105370760	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:105370500-105370650	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr12:105370640-105370790	RPTEC	kidney:	n/a	n/a
45	CTCF	chr12:105370560-105370710	HMF	breast:	n/a	n/a
46	CTCF	chr12:105370487-105370949	K562	blood:	n/a	n/a
47	CTCF	chr12:105370520-105370670	K562	blood:	n/a	n/a
48	CTCF	chr12:105370360-105370510	NB4	blood:	n/a	n/a
49	CTCF	chr12:105370660-105370810	HVMF	connective:	n/a	n/a
50	CTCF	chr12:105370560-105370710	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105373554..105375601-chr12:105378341..105380639,2	K562	blood:
2	chr12:105371850..105375601-chr12:105378341..105381533,4	K562	blood:
3	chr12:105372994..105375958-chr12:105380772..105382455,2	K562	blood:
4	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:
5	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:
6	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:
7	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:
8	chr12:105374222..105376739-chr12:105379905..105381631,3	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P20	TF binding region
ENSG00000151131	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs561169360	chr12:105370236-105370237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141191799	chr12:105370263-105370264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184569820	chr12:105370271-105370272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371046786	chr12:105370394-105370395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546970596	chr12:105370396-105370397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560578239	chr12:105370474-105370475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150351983	chr12:105370516-105370517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376263065	chr12:105370632-105370633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370885462	chr12:105370660-105370661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189839533	chr12:105370666-105370667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531951474	chr12:105370691-105370692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548860784	chr12:105370712-105370713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181428978	chr12:105370760-105370761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533790050	chr12:105370767-105370768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553315247	chr12:105370786-105370787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375108811	chr12:105370813-105370814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570232907	chr12:105370824-105370825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539123666	chr12:105370825-105370826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368186228	chr12:105370831-105370832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114686760	chr12:105370840-105370841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117384892	chr12:105370901-105370902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138008541	chr12:105370934-105370935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374890480	chr12:105370935-105370936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540647089	chr12:105370960-105370961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11112272	chr12:105370961-105370962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372826950	chr12:105371079-105371080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532682694	chr12:105371126-105371127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34604372	chr12:105371136-105371137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546308995	chr12:105371146-105371147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562987005	chr12:105371170-105371171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531935730	chr12:105371171-105371172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548450292	chr12:105371227-105371228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186014125	chr12:105371241-105371242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567883139	chr12:105371263-105371264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531970907	chr12:105371272-105371273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141533623	chr12:105371273-105371274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115940922	chr12:105371365-105371366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547015257	chr12:105371405-105371406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377724371	chr12:105371407-105371408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570099318	chr12:105371408-105371409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539189806	chr12:105371418-105371419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555840225	chr12:105371423-105371424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569605714	chr12:105371429-105371430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34122323	chr12:105371433-105371434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74524019	chr12:105371478-105371479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535649326	chr12:105371503-105371504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377287217	chr12:105371533-105371534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369714363	chr12:105371538-105371539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202077602	chr12:105371555-105371556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11112273	chr12:105371567-105371568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105368000-105370800	Enhancers	HMEC	breast
2	chr12:105368000-105371800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:105368000-105371800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:105368200-105372000	Enhancers	Primary B cells from cord blood	blood
5	chr12:105368400-105370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:105368400-105370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:105368600-105370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:105368600-105370600	Weak transcription	Placenta	Placenta
9	chr12:105368800-105370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:105368800-105370400	Enhancers	NHEK	skin
11	chr12:105369000-105371200	Enhancers	GM12878-XiMat	blood
12	chr12:105369000-105371600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:105370600-105371000	Enhancers	Placenta	Placenta
14	chr12:105370800-105371600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:105370800-105371600	Enhancers	Spleen	Spleen
16	chr12:105371800-105373400	Weak transcription	Primary B cells from peripheral blood	blood

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