Variant report

Variant	nsv899166
Chromosome Location	chr12:63559239-63641641
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:
2	chr12:63632053..63632963-chr5:177630919..177631572,2	Hela-S3	cervix:
3	chr12:63617360..63618250-chr8:143764719..143765546,2	MCF-7	breast:
4	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM5-5	chr12:63563605-63563746	l_664_chr12:63563604-63657550_brain
2	lnc-TMEM5-5	chr12:63563762-63563912	l_664_chr12:63563604-63657550_brain
3	lnc-TMEM5-5	chr12:63580624-63580735	l_664_chr12:63563604-63657550_brain

No data

Variant related genes	Relation type
ENSG00000197451	chromatin interactions

Extended variants
information (count: 952 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75310183	chr12:63561812-63561813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12227476	chr12:63561941-63561942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10877976	chr12:63561942-63561943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183908617	chr12:63561971-63561972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148455252	chr12:63562000-63562001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192003876	chr12:63563606-63563607	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573670691	chr12:63563644-63563645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542780042	chr12:63563661-63563662	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs373055410	chr12:63563677-63563678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs114622859	chr12:63563690-63563691	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142383432	chr12:63563699-63563700	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs184464254	chr12:63563711-63563712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs532769128	chr12:63563714-63563715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188514924	chr12:63563746-63563747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564938921	chr12:63563807-63563808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs368013041	chr12:63563833-63563834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552813244	chr12:63563834-63563835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs146541926	chr12:63563840-63563841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs575655069	chr12:63564078-63564079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543433554	chr12:63564079-63564080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74097660	chr12:63564107-63564108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184270919	chr12:63564121-63564122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145645611	chr12:63564163-63564164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546252867	chr12:63564209-63564210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559596877	chr12:63564216-63564217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189199390	chr12:63564219-63564220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548415247	chr12:63564245-63564246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568411871	chr12:63564265-63564266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182239047	chr12:63564367-63564368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370142984	chr12:63564375-63564376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551006248	chr12:63564387-63564388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187298074	chr12:63564389-63564390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367814903	chr12:63566410-63566411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555429769	chr12:63566411-63566412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370199506	chr12:63566440-63566441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544767341	chr12:63566457-63566458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564556747	chr12:63566494-63566495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578137852	chr12:63566552-63566553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542616708	chr12:63566554-63566555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540902215	chr12:63566577-63566578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554328253	chr12:63566578-63566579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558227918	chr12:63566592-63566593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541006883	chr12:63566636-63566637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536316233	chr12:63566644-63566645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552694658	chr12:63566733-63566734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528855559	chr12:63566743-63566744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112771717	chr12:63566852-63566853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572755719	chr12:63566892-63566893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149922928	chr12:63566902-63566903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368087588	chr12:63566906-63566907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63561800-63562000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:63564000-63564400	Enhancers	Liver	Liver
3	chr12:63566400-63570000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:63586200-63586400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:63586200-63586600	Enhancers	Gastric	stomach
6	chr12:63586400-63586800	Enhancers	Liver	Liver
7	chr12:63586600-63587200	Enhancers	Stomach Mucosa	stomach
8	chr12:63586600-63590000	Weak transcription	Gastric	stomach
9	chr12:63587200-63589800	Weak transcription	Stomach Mucosa	stomach
10	chr12:63589800-63590800	Enhancers	Stomach Mucosa	stomach
11	chr12:63590000-63590400	Enhancers	Gastric	stomach
12	chr12:63599200-63600400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:63599400-63601200	Enhancers	Hela-S3	cervix
14	chr12:63599600-63603000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:63599800-63600400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:63599800-63601400	Enhancers	Adipose Nuclei	Adipose
17	chr12:63599800-63602600	Enhancers	Liver	Liver
18	chr12:63600000-63601000	Enhancers	Fetal Intestine Large	intestine
19	chr12:63600200-63600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:63600400-63600800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:63600400-63601000	Enhancers	Stomach Mucosa	stomach
22	chr12:63600400-63601200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:63600800-63601000	Enhancers	Pancreas	Pancrea
24	chr12:63600800-63601200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:63600800-63603800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:63601000-63602000	Weak transcription	Fetal Intestine Large	intestine
27	chr12:63601200-63602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:63602000-63602200	Enhancers	Fetal Intestine Large	intestine
29	chr12:63602000-63602800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:63602600-63603600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:63603600-63603800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:63612800-63613000	Enhancers	Fetal Kidney	kidney
33	chr12:63613400-63614600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:63614000-63615200	Enhancers	HMEC	breast
35	chr12:63614200-63620200	Enhancers	Liver	Liver
36	chr12:63614400-63615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:63614600-63614800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:63614600-63615200	Enhancers	Adipose Nuclei	Adipose
39	chr12:63614800-63615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:63615000-63615200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:63615200-63616200	Weak transcription	Adipose Nuclei	Adipose
42	chr12:63615200-63616600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:63616400-63616600	Enhancers	Adipose Nuclei	Adipose
44	chr12:63616600-63617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:63617000-63617800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:63617000-63617800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:63617000-63618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:63617000-63618400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:63617400-63617800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr12:63618000-63621400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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