Variant report

Variant	nsv1035948
Chromosome Location	chr12:34450453-34578286
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
2	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
3	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
4	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
5	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
6	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
7	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
8	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
9	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
10	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
11	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
12	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
13	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
14	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
15	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
16	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
17	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
18	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
19	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
20	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
21	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
22	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
23	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
24	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
25	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
26	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:

No data

Extended variants
information (count: 8879 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8879 , 50 per page) page: 1 2 3 4 5 6 7 ... 178

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546690298	chr12:34450454-34450455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150901764	chr12:34450471-34450472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11053199	chr12:34450534-34450535	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545755453	chr12:34450576-34450577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376453169	chr12:34450605-34450606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563560622	chr12:34450611-34450612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535224584	chr12:34450614-34450615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113522593	chr12:34450627-34450628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74074346	chr12:34450640-34450641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74074347	chr12:34450665-34450666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201564861	chr12:34450675-34450676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530963816	chr12:34450690-34450691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73101901	chr12:34450698-34450699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76933569	chr12:34450718-34450719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs72065903	chr12:34450734-34450735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34131237	chr12:34450735-34450736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545376120	chr12:34450736-34450737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552561946	chr12:34450738-34450739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566373561	chr12:34450741-34450742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113411311	chr12:34450761-34450762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540134165	chr12:34450791-34450792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs185559184	chr12:34450800-34450801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573234690	chr12:34450801-34450802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567761696	chr12:34450806-34450807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540639983	chr12:34450810-34450811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs57300753	chr12:34450819-34450820	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188806583	chr12:34450820-34450821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539634646	chr12:34450842-34450843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552950032	chr12:34450899-34450900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573177295	chr12:34450904-34450905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370118187	chr12:34450932-34450933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374932366	chr12:34450981-34450982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542191414	chr12:34450989-34450990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554993404	chr12:34450995-34450996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144219993	chr12:34450996-34450997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181580780	chr12:34451008-34451009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs116840236	chr12:34451017-34451018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74074349	chr12:34451019-34451020	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3934519	chr12:34451031-34451032	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186085477	chr12:34451033-34451034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528753943	chr12:34451045-34451046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548508008	chr12:34451067-34451068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs35402601	chr12:34451076-34451077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148748668	chr12:34451111-34451112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530443992	chr12:34451129-34451130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191082227	chr12:34451148-34451149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570535383	chr12:34451166-34451167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs377260317	chr12:34451177-34451178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553128773	chr12:34451204-34451205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566713617	chr12:34451236-34451237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
13	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:34463600-34464000	Flanking Active TSS	K562	blood
15	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr12:34464000-34465800	Weak transcription	K562	blood
17	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr12:34465800-34467000	Enhancers	K562	blood
20	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
27	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
28	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
32	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:34486200-34487000	Enhancers	K562	blood
34	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
35	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:34487000-34487800	Weak transcription	K562	blood
37	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
38	chr12:34487800-34488600	Active TSS	K562	blood
39	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
40	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
41	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:34488600-34488800	Flanking Active TSS	K562	blood
43	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr12:34488800-34489000	Active TSS	K562	blood
45	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
46	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
47	chr12:34489000-34490600	Flanking Active TSS	K562	blood
48	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
49	chr12:34490600-34490800	Enhancers	K562	blood
50	chr12:34490600-34491200	Bivalent Enhancer	A549	lung

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