Variant report

Variant	nsv975527
Chromosome Location	chr12:104907535-104909236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:104909210-104909519	K562	blood:	n/a	n/a
2	FOS	chr12:104907638-104907639	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr12:104908212-104908494	HepG2	liver:	n/a	chr12:104908370-104908383
4	JUND	chr12:104908204-104908562	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104909053..104911961-chr12:104913731..104916040,2	MCF-7	breast:
2	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TXNRD1-5	chr12:104907807-104908217	NONHSAT030428

Variant related genes	Relation type
ENSG00000258111	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190478114	chr12:104907548-104907549	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552842284	chr12:104907572-104907573	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560733863	chr12:104907598-104907599	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74571716	chr12:104907622-104907623	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151226162	chr12:104907634-104907635	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140921156	chr12:104907635-104907636	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574326557	chr12:104907639-104907640	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372658351	chr12:104907653-104907654	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183385018	chr12:104907654-104907655	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371551256	chr12:104907684-104907685	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553572057	chr12:104907699-104907700	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576573357	chr12:104907714-104907715	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187789098	chr12:104907740-104907741	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115196310	chr12:104907753-104907754	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575841766	chr12:104907846-104907847	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150201933	chr12:104907874-104907875	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs145756620	chr12:104907875-104907876	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574127574	chr12:104907913-104907914	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547005402	chr12:104907944-104907945	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs560557494	chr12:104907951-104907952	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532697268	chr12:104907991-104907992	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs552705315	chr12:104908002-104908003	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569431040	chr12:104908052-104908053	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs538454788	chr12:104908069-104908070	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs548581471	chr12:104908070-104908071	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs568773063	chr12:104908114-104908115	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs141694200	chr12:104908139-104908140	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529546970	chr12:104908184-104908185	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547823221	chr12:104908202-104908203	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553778546	chr12:104908208-104908209	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs12314344	chr12:104908213-104908214	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539107037	chr12:104908214-104908215	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147062800	chr12:104908234-104908235	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575804731	chr12:104908243-104908244	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138443299	chr12:104908255-104908256	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112796340	chr12:104908269-104908270	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572344900	chr12:104908276-104908277	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540263276	chr12:104908314-104908315	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560478366	chr12:104908343-104908344	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532557863	chr12:104908389-104908390	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546282585	chr12:104908423-104908424	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189916916	chr12:104908463-104908464	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116968461	chr12:104908507-104908508	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531799803	chr12:104908508-104908509	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548805992	chr12:104908543-104908544	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146895659	chr12:104908547-104908548	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527940982	chr12:104908548-104908549	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547785053	chr12:104908552-104908553	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570079839	chr12:104908594-104908595	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530973890	chr12:104908641-104908642	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:104901200-104907800	Weak transcription	Right Ventricle	heart
5	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:104901400-104907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
8	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
10	chr12:104904200-104909200	Weak transcription	Thymus	Thymus
11	chr12:104904400-104907600	Weak transcription	Lung	lung
12	chr12:104904400-104910600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:104904400-104913400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:104904400-104916800	Weak transcription	A549	lung
15	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:104904600-104913200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:104905000-104911000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:104905200-104907600	Weak transcription	Left Ventricle	heart
19	chr12:104905200-104909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:104905200-104911000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:104905200-104912000	Weak transcription	GM12878-XiMat	blood
22	chr12:104905200-104913200	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:104905200-104913200	Weak transcription	Fetal Thymus	thymus
24	chr12:104905200-104913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104905200-104913400	Weak transcription	Fetal Lung	lung
26	chr12:104905200-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:104905400-104908200	Weak transcription	Right Atrium	heart
30	chr12:104905400-104908600	Weak transcription	Brain Anterior Caudate	brain
31	chr12:104905400-104909400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:104905400-104912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:104905400-104912800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:104905400-104914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:104905600-104907600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:104905600-104907800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:104905600-104908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:104905600-104909000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:104905600-104909400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:104905600-104909400	Weak transcription	Gastric	stomach
41	chr12:104905600-104910000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:104905600-104912400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:104905600-104912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:104905600-104913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:104905600-104913200	Weak transcription	Aorta	Aorta
46	chr12:104905600-104913400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:104905600-104913400	Weak transcription	Spleen	Spleen
48	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:104906200-104908000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:104906200-104908400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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