Variant report

Variant	nsv899478
Chromosome Location	chr12:103747515-103834275
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:16)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:103794502..103795818-chr12:103897463..103898386,6	MCF-7	breast:
2	chr12:103799013..103801250-chr12:103801844..103804662,2	MCF-7	breast:
3	chr12:103643339..103643876-chr12:103766841..103767542,2	MCF-7	breast:
4	chr12:103771156..103771660-chr4:95383174..95384022,2	MCF-7	breast:
5	chr12:103794543..103795432-chr12:103917954..103918672,2	MCF-7	breast:
6	chr12:103799013..103801250-chr12:103801844..103804662,2	MCF-7	breast:
7	chr12:103569035..103569938-chr12:103766846..103767430,3	MCF-7	breast:
8	chr12:103745859..103749136-chr12:103750822..103754295,3	MCF-7	breast:
9	chr12:103639814..103640778-chr12:103766634..103767396,2	MCF-7	breast:
10	chr12:103790373..103792563-chr12:103796699..103799468,2	K562	blood:
11	chr12:103795267..103795917-chr12:103941709..103942438,2	MCF-7	breast:
12	chr12:103826728..103828711-chr12:103887263..103890127,2	MCF-7	breast:
13	chr12:103745859..103749136-chr12:103750822..103754295,3	MCF-7	breast:
14	chr12:103567485..103570052-chr12:103761974..103764560,2	MCF-7	breast:
15	chr12:103795366..103795878-chr12:103941902..103942845,3	MCF-7	breast:
16	chr12:103790373..103792563-chr12:103796699..103799468,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAH-2	chr12:103761790-103761884	NONHSAT030371
2	lnc-PAH-2	chr12:103790271-103790478	NONHSAT030374
3	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030374
4	lnc-PAH-2	chr12:103762665-103762776	NR_103526
5	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030372
6	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030372
7	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030367
8	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030368
9	lnc-PAH-2	chr12:103795385-103795453	NR_103526
10	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030368
11	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030367
12	lnc-PAH-2	chr12:103791474-103791531	NONHSAT030374
13	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030370
14	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030371
15	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030370
16	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030371

No data

Variant related genes	Relation type
ENSG00000179088	chromatin interactions

Extended variants
information (count: 3314 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3314 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7981001	chr12:103747515-103747516	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564185450	chr12:103747544-103747545	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532916163	chr12:103747570-103747571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139757518	chr12:103747588-103747589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144511940	chr12:103747590-103747591	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114997147	chr12:103747611-103747612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191952215	chr12:103747619-103747620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566120762	chr12:103747629-103747630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115680837	chr12:103747638-103747639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557939370	chr12:103747696-103747697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7980952	chr12:103747711-103747712	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573090957	chr12:103747730-103747731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74863829	chr12:103747738-103747739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556935760	chr12:103747779-103747780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573730574	chr12:103747785-103747786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541734296	chr12:103747868-103747869	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562034212	chr12:103747869-103747870	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572110392	chr12:103747891-103747892	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77810225	chr12:103747921-103747922	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75375028	chr12:103747972-103747973	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533056522	chr12:103747990-103747991	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs180902579	chr12:103748031-103748032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563258986	chr12:103748063-103748064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145928153	chr12:103748082-103748083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541800829	chr12:103748113-103748114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146669103	chr12:103748161-103748162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185785419	chr12:103748190-103748191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566379525	chr12:103748220-103748221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372972155	chr12:103748247-103748248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191473900	chr12:103748411-103748412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182564465	chr12:103748434-103748435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571557935	chr12:103748472-103748473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1879621	chr12:103748475-103748476	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs187073422	chr12:103748521-103748522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567521687	chr12:103748553-103748554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1879620	chr12:103748572-103748573	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540871837	chr12:103748585-103748586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79763087	chr12:103748657-103748658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572308145	chr12:103748672-103748673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541013302	chr12:103748701-103748702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373853488	chr12:103748716-103748717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139472037	chr12:103748742-103748743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565318626	chr12:103748743-103748744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543523838	chr12:103748769-103748770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563394716	chr12:103748794-103748795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149686030	chr12:103748808-103748809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373040546	chr12:103748809-103748810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145502383	chr12:103748818-103748819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148860211	chr12:103748842-103748843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190783164	chr12:103748851-103748852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103707200-103786400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:103745600-103755800	Weak transcription	Spleen	Spleen
3	chr12:103745800-103750000	Strong transcription	Primary B cells from peripheral blood	blood
4	chr12:103746800-103747600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:103747200-103763400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:103747800-103748000	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr12:103748600-103749200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:103749200-103749400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:103749400-103752000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:103750000-103752200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:103752200-103752600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:103752600-103754400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:103754400-103756800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:103755800-103756000	Enhancers	Spleen	Spleen
15	chr12:103756800-103757400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr12:103759400-103760400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr12:103760400-103760600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:103760400-103766400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:103760600-103761000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr12:103761000-103762600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:103762600-103763200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:103762600-103763800	Enhancers	GM12878-XiMat	blood
23	chr12:103763200-103763600	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:103763600-103786400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:103763800-103764200	Weak transcription	GM12878-XiMat	blood
26	chr12:103764200-103764600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr12:103765600-103766400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:103765800-103766800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:103765800-103767800	Enhancers	Thymus	Thymus
30	chr12:103765800-103768400	Enhancers	Dnd41	blood
31	chr12:103766400-103767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:103767000-103767600	Enhancers	GM12878-XiMat	blood
33	chr12:103767200-103768000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:103767200-103768600	Enhancers	Pancreas	Pancrea
35	chr12:103767800-103776600	Weak transcription	Thymus	Thymus
36	chr12:103768000-103771000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:103771000-103771200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:103771000-103773600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:103771200-103772000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:103772000-103772600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:103772600-103777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:103776600-103776800	Enhancers	Thymus	Thymus
43	chr12:103778200-103778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:103778400-103778800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:103784400-103784800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:103785800-103787400	ZNF genes & repeats	GM12878-XiMat	blood
47	chr12:103786200-103786600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:103786400-103786800	Enhancers	Dnd41	blood
49	chr12:103786400-103787000	Enhancers	Primary B cells from cord blood	blood
50	chr12:103786400-103787200	Enhancers	Primary B cells from peripheral blood	blood

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