Variant report

Variant	nsv899140
Chromosome Location	chr12:61105785-61316609
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:61265974..61267764-chr12:61267899..61270793,2	K562	blood:
2	chr12:61265974..61267764-chr12:61267899..61270793,2	K562	blood:
3	chr12:61283745..61285342-chr12:61298601..61300697,2	MCF-7	breast:
4	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:
5	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:
6	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
7	chr12:61224129..61226014-chr12:61242973..61245139,2	MCF-7	breast:
8	chr1:188145515..188146513-chr12:61190169..61191167,2	MCF-7	breast:
9	chr12:61237684..61240062-chr12:61243559..61245280,2	K562	blood:
10	chr12:61224129..61226014-chr12:61242973..61245139,2	MCF-7	breast:
11	chr12:61283745..61285342-chr12:61298601..61300697,2	MCF-7	breast:
12	chr12:61189187..61192169-chr8:43095061..43097452,4	MCF-7	breast:
13	chr12:61190167..61190689-chr8:43096069..43096590,2	MCF-7	breast:
14	chr12:61189187..61190689-chr8:43092929..43094431,2	MCF-7	breast:
15	chr12:61237684..61240062-chr12:61243559..61245280,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-8	chr12:61238450-61238656	expReg_chr12_6535_+

No data

Extended variants
information (count: 1905 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1905 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12582294	chr12:61105785-61105786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542707822	chr12:61105792-61105793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563007693	chr12:61105838-61105839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572556109	chr12:61105903-61105904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542139706	chr12:61105910-61105911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142943492	chr12:61105995-61105996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551407638	chr12:61106004-61106005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561811532	chr12:61106005-61106006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565213490	chr12:61106025-61106026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs273834	chr12:61106068-61106069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189914291	chr12:61106135-61106136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547709431	chr12:61106146-61106147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550490030	chr12:61106162-61106163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544946798	chr12:61106188-61106189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144563938	chr12:61106195-61106196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567709540	chr12:61106202-61106203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376972986	chr12:61106217-61106218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs273833	chr12:61106231-61106232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181185915	chr12:61106235-61106236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373765968	chr12:61106248-61106249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568980656	chr12:61106251-61106252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537821624	chr12:61106270-61106271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201035490	chr12:61106315-61106316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376976342	chr12:61106395-61106396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540583598	chr12:61106409-61106410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369650166	chr12:61106418-61106419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557822363	chr12:61106421-61106422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544712781	chr12:61106424-61106425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533205532	chr12:61106460-61106461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546611048	chr12:61106557-61106558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554037497	chr12:61106587-61106588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573713846	chr12:61106594-61106595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374327005	chr12:61106650-61106651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556376749	chr12:61106684-61106685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564920820	chr12:61106698-61106699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529487147	chr12:61106706-61106707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567798539	chr12:61106717-61106718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564911750	chr12:61106766-61106767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371219153	chr12:61106798-61106799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529976084	chr12:61133602-61133603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371669204	chr12:61133608-61133609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149363759	chr12:61133656-61133657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184997540	chr12:61133662-61133663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144729142	chr12:61133673-61133674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552032089	chr12:61133700-61133701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374219595	chr12:61133719-61133720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148540720	chr12:61133762-61133763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567163845	chr12:61133777-61133778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528108529	chr12:61133782-61133783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540576565	chr12:61133805-61133806	ZNF genes & repeats	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	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61104200-61106800	Enhancers	Colon Smooth Muscle	Colon
2	chr12:61133600-61134200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:61134200-61134800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:61139000-61139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:61146200-61147000	Enhancers	Dnd41	blood
6	chr12:61153800-61155200	Enhancers	Dnd41	blood
7	chr12:61190200-61190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:61195000-61195800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:61195200-61195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:61195800-61197000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:61197000-61197200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:61197000-61197400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:61197200-61197400	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:61197600-61199000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:61199000-61199200	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:61199000-61199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:61199200-61199600	Enhancers	Colon Smooth Muscle	Colon
18	chr12:61199200-61199600	Active TSS	Stomach Smooth Muscle	stomach
19	chr12:61201200-61206200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:61206200-61206400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr12:61206200-61206400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:61206200-61206400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
27	chr12:61206200-61206400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr12:61206400-61213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:61220600-61220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:61220800-61223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:61223600-61223800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:61223800-61224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:61223800-61224000	Enhancers	Hela-S3	cervix
34	chr12:61224400-61224800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:61224800-61225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:61225600-61226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:61225800-61226000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:61225800-61227000	Enhancers	Hela-S3	cervix
39	chr12:61226000-61226600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:61226200-61226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:61226600-61227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:61226600-61227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:61228400-61229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:61228400-61229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:61228400-61229800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:61228600-61229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:61229000-61229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:61229000-61229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:61229000-61229600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:61229200-61229600	Enhancers	H1 Cell Line	embryonic stem cell

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