Variant report

Variant	nsv560040
Chromosome Location	chr12:104279718-104283721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:104281580-104281730	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:104281700-104281850	AG04450	lung:	n/a	n/a
3	CTCF	chr12:104281580-104281730	AG10803	skin:	n/a	n/a
4	CTCF	chr12:104281500-104281650	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:104281560-104281710	HEK293	kidney:	n/a	n/a
6	CTCF	chr12:104281600-104281750	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr12:104283359-104283406	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:104283352-104283354	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:104283356-104283403	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:104281527-104281993	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr12:104283344-104283348	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:104281552-104282006	H1-neurons	neurons:	n/a	n/a
13	REST	chr12:104281255-104282297	H1-neurons	neurons:	n/a	n/a
14	SPI1	chr12:104283489-104283788	GM12878	blood:	n/a	n/a
15	SPI1	chr12:104283461-104283768	GM12891	blood:	n/a	n/a
16	ZEB1	chr12:104280236-104280616	GM12878	blood:	n/a	chr12:104280482-104280489

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:
2	chr12:104281610..104283570-chr12:104286260..104289028,2	K562	blood:
3	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:
4	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
5	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
6	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
7	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
8	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000214198	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs7295782	chr12:104279718-104279719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536638655	chr12:104279728-104279729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370371365	chr12:104279734-104279735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557635932	chr12:104279771-104279772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558258934	chr12:104279772-104279773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573954971	chr12:104279774-104279775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189504677	chr12:104279811-104279812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181810123	chr12:104279813-104279814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573086832	chr12:104279816-104279817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545524132	chr12:104279819-104279820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570089805	chr12:104279832-104279833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150557602	chr12:104279865-104279866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530934801	chr12:104279881-104279882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74952887	chr12:104279883-104279884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558631209	chr12:104279886-104279887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373456002	chr12:104279887-104279888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544237738	chr12:104279892-104279893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563587651	chr12:104279930-104279931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185201340	chr12:104279949-104279950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56205268	chr12:104279994-104279995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549279220	chr12:104279999-104280000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73386167	chr12:104280023-104280024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528288464	chr12:104280027-104280028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551503171	chr12:104280076-104280077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571209132	chr12:104280138-104280139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537060055	chr12:104280144-104280145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542990105	chr12:104280181-104280182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555127655	chr12:104280182-104280183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7299349	chr12:104280224-104280225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190838055	chr12:104280225-104280226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553241724	chr12:104280259-104280260	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs140467813	chr12:104280265-104280266	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182694594	chr12:104280287-104280288	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559018400	chr12:104280295-104280296	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546160203	chr12:104280320-104280321	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544613488	chr12:104280345-104280346	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561297725	chr12:104280368-104280369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73386170	chr12:104280369-104280370	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77444663	chr12:104280377-104280378	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11111824	chr12:104280475-104280476	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186348253	chr12:104280482-104280483	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs551247484	chr12:104280501-104280502	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565007686	chr12:104280568-104280569	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371283574	chr12:104280576-104280577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530494825	chr12:104280590-104280591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs72359868	chr12:104280599-104280600	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs144437271	chr12:104280610-104280611	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10861134	chr12:104280622-104280623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535841149	chr12:104280628-104280629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374058057	chr12:104280665-104280666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
3	chr12:104278800-104280200	Weak transcription	GM12878-XiMat	blood
4	chr12:104279200-104284200	Weak transcription	Thymus	Thymus
5	chr12:104280200-104280600	Enhancers	GM12878-XiMat	blood
6	chr12:104280600-104283400	Weak transcription	GM12878-XiMat	blood
7	chr12:104281200-104284200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:104281600-104282200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:104282600-104284800	Weak transcription	Pancreas	Pancrea
10	chr12:104282800-104283200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:104283200-104283400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:104283400-104284000	Enhancers	GM12878-XiMat	blood
13	chr12:104283400-104284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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