Variant report

Variant	nsv1054692
Chromosome Location	chr12:573422-615386
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:611154..613945-chr12:632166..635023,2	MCF-7	breast:
2	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
3	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
4	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
5	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
6	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
7	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
8	chr12:589171..589964-chr12:633097..633983,2	MCF-7	breast:
9	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
10	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
11	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
12	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
13	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
14	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
15	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
16	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
17	chr12:568218..570488-chr12:587646..590152,3	K562	blood:
18	chr12:567380..570258-chr12:571395..573761,2	MCF-7	breast:
19	chr12:562294..562804-chr12:608079..608940,2	MCF-7	breast:
20	chr12:592627..596074-chr12:611199..615537,4	K562	blood:
21	chr12:592627..596074-chr12:611199..615537,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139044	chromatin interactions

Extended variants
information (count: 1838 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1838 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7310779	chr12:573447-573448	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532224918	chr12:573482-573483	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538470202	chr12:573518-573519	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190657764	chr12:573567-573568	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571820693	chr12:573569-573570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10849032	chr12:573594-573595	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs553866888	chr12:573615-573616	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572040137	chr12:573621-573622	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529783419	chr12:573623-573624	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554895671	chr12:573624-573625	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375169483	chr12:573650-573651	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376100304	chr12:573652-573653	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576248505	chr12:573658-573659	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145038153	chr12:573668-573669	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370626564	chr12:573679-573680	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564741391	chr12:573721-573722	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576600858	chr12:573722-573723	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545115777	chr12:573763-573764	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs548248626	chr12:573791-573792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35653120	chr12:573796-573797	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs386375351	chr12:573797-573798	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs368410211	chr12:573807-573808	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs398116006	chr12:573808-573809	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184097581	chr12:573843-573844	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527715001	chr12:573857-573858	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10735031	chr12:573870-573871	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs80034863	chr12:573939-573940	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559904820	chr12:573958-573959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535251357	chr12:573963-573964	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs58409356	chr12:573973-573974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188579095	chr12:573983-573984	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116198123	chr12:574035-574036	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571973477	chr12:574059-574060	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539219234	chr12:574090-574091	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548622381	chr12:574098-574099	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547542952	chr12:574227-574228	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138826239	chr12:574249-574250	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536285651	chr12:574257-574258	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34920814	chr12:574268-574269	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115021436	chr12:574269-574270	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575946617	chr12:574274-574275	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536971935	chr12:574301-574302	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558398169	chr12:574342-574343	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562367381	chr12:574370-574371	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61548455	chr12:574393-574394	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141430773	chr12:574401-574402	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554290994	chr12:574447-574448	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572454786	chr12:574481-574482	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12369312	chr12:574501-574502	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73590332	chr12:574517-574518	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:570200-579400	Weak transcription	Lung	lung
2	chr12:570400-573800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:570800-573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:570800-574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:571000-574000	Weak transcription	Fetal Kidney	kidney
6	chr12:571000-590200	Weak transcription	Esophagus	oesophagus
7	chr12:571200-574200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:571400-573800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:571400-574000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:571400-574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:571400-575600	Enhancers	Stomach Mucosa	stomach
12	chr12:571400-576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:571400-577800	Weak transcription	Gastric	stomach
14	chr12:571600-573600	Flanking Active TSS	Fetal Heart	heart
15	chr12:571600-579000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:572000-574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:572200-579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:572400-573600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr12:572400-573800	Weak transcription	Colonic Mucosa	Colon
20	chr12:572400-573800	Weak transcription	NHEK	skin
21	chr12:572400-574000	Weak transcription	Aorta	Aorta
22	chr12:572400-574000	Weak transcription	Pancreas	Pancrea
23	chr12:572400-574200	Weak transcription	Right Atrium	heart
24	chr12:572400-582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:572600-574000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:572600-574000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:572600-577800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:572800-573800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:572800-573800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:572800-573800	Enhancers	Right Ventricle	heart
31	chr12:572800-582800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:573000-573600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:573200-573800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:573200-575200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:573200-575600	Enhancers	Left Ventricle	heart
36	chr12:573200-584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:573400-573800	Weak transcription	HMEC	breast
38	chr12:573400-574400	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr12:573400-575400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr12:573600-574000	Enhancers	Fetal Heart	heart
41	chr12:573600-574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:573600-574000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:573600-574400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:573800-574000	Enhancers	HSMM	muscle
45	chr12:573800-574200	Enhancers	Fetal Brain Female	brain
46	chr12:573800-574200	Flanking Active TSS	Right Ventricle	heart
47	chr12:573800-574200	Enhancers	HMEC	breast
48	chr12:573800-574400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:573800-574400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:573800-574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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