Variant report

Variant	esv1834041
Chromosome Location	chr12:123184235-123187305
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	chr12:123186486..123188573-chr12:123199930..123201817,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DENR-2	chr12:123185843-123186416	NONHSAT031529

Variant related genes	Relation type
ENSG00000255398	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs4453272	chr12:123184235-123184236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549745955	chr12:123184258-123184259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561857264	chr12:123184282-123184283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56339031	chr12:123184288-123184289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529457464	chr12:123184317-123184318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547917645	chr12:123184327-123184328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56378575	chr12:123184335-123184336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549589422	chr12:123184352-123184353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566142230	chr12:123184364-123184365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539468359	chr12:123184399-123184400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199750753	chr12:123184442-123184443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200694941	chr12:123184443-123184444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376797553	chr12:123184454-123184455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570287076	chr12:123184455-123184456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61955025	chr12:123184465-123184466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs537739325	chr12:123184471-123184472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555586259	chr12:123184509-123184510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573897998	chr12:123184511-123184512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534848319	chr12:123184538-123184539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553466523	chr12:123184542-123184543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs612057	chr12:123184550-123184551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs4759401	chr12:123184626-123184627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71308022	chr12:123184660-123184661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376064109	chr12:123184661-123184662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564095234	chr12:123184763-123184764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576301468	chr12:123184784-123184785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543699524	chr12:123184935-123184936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148147685	chr12:123184963-123184964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs599145	chr12:123185133-123185134	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs183621377	chr12:123185308-123185309	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs523732	chr12:123185314-123185315	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111679231	chr12:123185327-123185328	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs523030	chr12:123185336-123185337	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547583483	chr12:123185368-123185369	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559911825	chr12:123185371-123185372	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188320480	chr12:123185407-123185408	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573009201	chr12:123185416-123185417	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139180810	chr12:123185423-123185424	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181061793	chr12:123185428-123185429	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570027755	chr12:123185479-123185480	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545471658	chr12:123185496-123185497	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs597365	chr12:123185538-123185539	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76566182	chr12:123185545-123185546	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549275250	chr12:123185550-123185551	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567584634	chr12:123185553-123185554	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71440208	chr12:123185554-123185555	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78719322	chr12:123185555-123185556	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565673705	chr12:123185558-123185559	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs146478919	chr12:123185563-123185564	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs586573	chr12:123185601-123185602	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123166600-123187800	Weak transcription	A549	lung
2	chr12:123174000-123199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:123181800-123185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:123182600-123185200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:123182600-123185200	Weak transcription	HMEC	breast
6	chr12:123182600-123185400	Weak transcription	NHEK	skin
7	chr12:123182800-123185200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:123183000-123185000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:123183000-123185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:123183000-123185400	Weak transcription	Placenta	Placenta
11	chr12:123183800-123184800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:123184000-123188800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:123184200-123185800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:123184800-123185200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:123185000-123185400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123185200-123185400	Active TSS	Adipose Nuclei	Adipose
17	chr12:123185200-123185800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:123185200-123186000	Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:123185200-123186000	Enhancers	HMEC	breast
20	chr12:123185200-123186000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:123185200-123187200	Active TSS	Esophagus	oesophagus
22	chr12:123185400-123185600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:123185400-123185600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:123185400-123185600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:123185400-123185600	Enhancers	Placenta	Placenta
26	chr12:123185400-123185600	Flanking Active TSS	NHEK	skin
27	chr12:123185400-123186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123185400-123186800	Active TSS	Primary hematopoietic stem cells	blood
29	chr12:123185400-123188200	Active TSS	Primary B cells from cord blood	blood
30	chr12:123185600-123185800	Active TSS	Adipose Nuclei	Adipose
31	chr12:123185600-123185800	Enhancers	NHEK	skin
32	chr12:123185600-123186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:123185600-123186000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:123185600-123186000	Weak transcription	Placenta	Placenta
35	chr12:123185800-123186000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:123185800-123186000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:123185800-123186000	Flanking Active TSS	NHEK	skin
38	chr12:123185800-123186200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:123185800-123186200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:123185800-123186400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:123185800-123186400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:123185800-123187000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:123186000-123186200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:123186000-123186200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:123186000-123186400	Enhancers	NHLF	lung
46	chr12:123186000-123187400	Weak transcription	HMEC	breast
47	chr12:123186000-123188000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123186000-123188000	Enhancers	Placenta	Placenta
49	chr12:123186000-123188200	Enhancers	NHEK	skin
50	chr12:123186000-123188600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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