Variant report

Variant	nsv559144
Chromosome Location	chr12:61054803-61214545
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
2	chr12:61190167..61190689-chr8:43096069..43096590,2	MCF-7	breast:
3	chr12:61189187..61190689-chr8:43092929..43094431,2	MCF-7	breast:
4	chr12:61082989..61083868-chr12:61821155..61821770,3	MCF-7	breast:
5	chr12:61068552..61070950-chr12:61071562..61073630,2	K562	blood:
6	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:
7	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:
8	chr12:61189187..61192169-chr8:43095061..43097452,4	MCF-7	breast:
9	chr12:61057349..61058143-chr8:92718418..92719083,2	MCF-7	breast:
10	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:
11	chr1:188145515..188146513-chr12:61190169..61191167,2	MCF-7	breast:
12	chr12:61083057..61084756-chr12:61085691..61088224,2	MCF-7	breast:
13	chr12:61083057..61084756-chr12:61085691..61088224,2	MCF-7	breast:
14	chr12:61095133..61097553-chr12:61097984..61100105,2	MCF-7	breast:
15	chr12:61095133..61097553-chr12:61097984..61100105,2	MCF-7	breast:
16	chr12:61068552..61070950-chr12:61071562..61073630,2	K562	blood:
17	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-7	chr12:61089153-61089356	expReg_chr12_6482_+

No data

Extended variants
information (count: 1218 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574779381	chr12:61063834-61063835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs434782	chr12:61063844-61063845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138725415	chr12:61063845-61063846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77120997	chr12:61063892-61063893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191450343	chr12:61063902-61063903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78331078	chr12:61063904-61063905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149365175	chr12:61063930-61063931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183605159	chr12:61063934-61063935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527379245	chr12:61063974-61063975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188551433	chr12:61063996-61063997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192827549	chr12:61064009-61064010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570237085	chr12:61064016-61064017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144732144	chr12:61064059-61064060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563302155	chr12:61064060-61064061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538943562	chr12:61064074-61064075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552354067	chr12:61064098-61064099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565781852	chr12:61064165-61064166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537561377	chr12:61064182-61064183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535106566	chr12:61064194-61064195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59174263	chr12:61064258-61064259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574899489	chr12:61064264-61064265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1604715	chr12:61064293-61064294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556946038	chr12:61064389-61064390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573813849	chr12:61064402-61064403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12822965	chr12:61064533-61064534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73365540	chr12:61064554-61064555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112784487	chr12:61064688-61064689	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200955596	chr12:61064712-61064713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370267347	chr12:61064723-61064724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573394012	chr12:61064733-61064734	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377300716	chr12:61064734-61064735	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190127443	chr12:61064766-61064767	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560792074	chr12:61064783-61064784	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs273787	chr12:61064796-61064797	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549753832	chr12:61064817-61064818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116444813	chr12:61064827-61064828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532444510	chr12:61064855-61064856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552228456	chr12:61064871-61064872	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528943816	chr12:61064889-61064890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565851545	chr12:61064936-61064937	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181646188	chr12:61064948-61064949	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185042040	chr12:61064999-61065000	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568422484	chr12:61065020-61065021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542467430	chr12:61065094-61065095	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570530542	chr12:61065139-61065140	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537151477	chr12:61065194-61065195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556935915	chr12:61065247-61065248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570555309	chr12:61065282-61065283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539730565	chr12:61065295-61065296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142466156	chr12:61065327-61065328	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	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
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61063800-61064600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:61064400-61065600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:61064400-61065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:61064600-61065200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:61065200-61065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:61065800-61066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:61066600-61067200	Enhancers	Brain Germinal Matrix	brain
8	chr12:61067200-61068600	Weak transcription	Brain Germinal Matrix	brain
9	chr12:61068600-61069400	Enhancers	Brain Germinal Matrix	brain
10	chr12:61097800-61098600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:61104200-61106800	Enhancers	Colon Smooth Muscle	Colon
12	chr12:61133600-61134200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:61134200-61134800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:61139000-61139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:61146200-61147000	Enhancers	Dnd41	blood
16	chr12:61153800-61155200	Enhancers	Dnd41	blood
17	chr12:61190200-61190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:61195000-61195800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:61195200-61195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:61195800-61197000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:61197000-61197200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:61197000-61197400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:61197200-61197400	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:61197600-61199000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:61199000-61199200	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:61199000-61199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:61199200-61199600	Enhancers	Colon Smooth Muscle	Colon
28	chr12:61199200-61199600	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:61201200-61206200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:61206200-61206400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr12:61206200-61206400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:61206200-61206400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
37	chr12:61206200-61206400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr12:61206400-61213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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