Variant report

Variant	nsv1044018
Chromosome Location	chr12:34462383-34854486
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
2	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
3	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
4	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
5	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
6	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
7	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
8	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
9	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
10	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
11	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
12	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
13	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
14	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
15	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
16	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
17	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
18	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
19	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
20	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
21	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
22	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
23	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
24	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
25	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
26	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
27	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
28	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
29	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
30	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
31	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
32	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
33	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
34	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
35	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
36	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 25842 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25842 , 50 per page) page: 1 2 3 4 5 6 7 ... 517

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557845970	chr12:34462401-34462402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182029326	chr12:34462418-34462419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540409643	chr12:34462451-34462452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553716183	chr12:34462474-34462475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573575356	chr12:34462497-34462498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374698696	chr12:34462516-34462517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542534542	chr12:34462517-34462518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561710708	chr12:34462543-34462544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530823131	chr12:34462544-34462545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553521132	chr12:34462564-34462565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568605704	chr12:34462582-34462583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564601516	chr12:34462583-34462584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139840852	chr12:34462616-34462617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112118515	chr12:34462624-34462625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185001600	chr12:34462625-34462626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529585243	chr12:34462642-34462643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113546900	chr12:34462673-34462674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575694111	chr12:34462712-34462713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369043526	chr12:34462725-34462726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557505288	chr12:34462731-34462732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111827897	chr12:34462736-34462737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34909807	chr12:34462747-34462748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546247751	chr12:34462750-34462751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553521806	chr12:34462751-34462752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573515137	chr12:34462760-34462761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542473266	chr12:34462768-34462769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546745095	chr12:34462774-34462775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35129389	chr12:34462778-34462779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557889100	chr12:34462781-34462782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544584932	chr12:34462782-34462783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376557015	chr12:34462786-34462787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564359481	chr12:34462794-34462795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35125027	chr12:34462797-34462798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573252720	chr12:34462800-34462801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540395143	chr12:34462812-34462813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560636056	chr12:34462816-34462817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529523338	chr12:34462817-34462818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549654068	chr12:34462820-34462821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563163073	chr12:34462840-34462841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540378935	chr12:34462844-34462845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12319269	chr12:34462847-34462848	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559450829	chr12:34462872-34462873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373325230	chr12:34462896-34462897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12319285	chr12:34462908-34462909	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571174871	chr12:34462913-34462914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541709962	chr12:34462935-34462936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111344946	chr12:34462955-34462956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567075930	chr12:34462957-34462958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149846205	chr12:34462960-34462961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555981354	chr12:34462975-34462976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
3	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:34463600-34464000	Flanking Active TSS	K562	blood
5	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr12:34464000-34465800	Weak transcription	K562	blood
7	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr12:34465800-34467000	Enhancers	K562	blood
10	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
13	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
17	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
18	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
22	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:34486200-34487000	Enhancers	K562	blood
24	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
25	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:34487000-34487800	Weak transcription	K562	blood
27	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
28	chr12:34487800-34488600	Active TSS	K562	blood
29	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
30	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
31	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:34488600-34488800	Flanking Active TSS	K562	blood
33	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr12:34488800-34489000	Active TSS	K562	blood
35	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
36	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
37	chr12:34489000-34490600	Flanking Active TSS	K562	blood
38	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
39	chr12:34490600-34490800	Enhancers	K562	blood
40	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
41	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:34492400-34493200	Bivalent Enhancer	A549	lung
47	chr12:34492800-34496000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr12:34493200-34494200	Flanking Bivalent TSS/Enh	A549	lung
49	chr12:34493800-34494400	Bivalent Enhancer	Placenta	Placenta
50	chr12:34493800-34495000	Flanking Active TSS	K562	blood

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