Variant report

Variant	nsv1050752
Chromosome Location	chr12:34434964-34854486
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
2	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
3	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
4	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
5	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
6	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
7	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
8	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
9	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
10	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
11	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
12	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
13	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
14	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
15	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
16	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
17	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
18	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
19	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
20	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
21	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
22	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
23	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
24	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
25	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
26	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
27	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
28	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
29	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
30	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
31	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
32	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
33	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
34	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
35	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
36	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
37	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
38	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
39	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 27515 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:27515 , 50 per page) page: 1 2 3 4 5 6 7 ... 551

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529349183	chr12:34434973-34434974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs61424435	chr12:34435008-34435009	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7296061	chr12:34435009-34435010	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530671654	chr12:34435022-34435023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144422530	chr12:34435023-34435024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs58310306	chr12:34435029-34435030	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539545703	chr12:34435031-34435032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74825424	chr12:34435036-34435037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192128158	chr12:34435037-34435038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7315148	chr12:34435057-34435058	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182806058	chr12:34435075-34435076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568504365	chr12:34435100-34435101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537479246	chr12:34435136-34435137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146595949	chr12:34435144-34435145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367747956	chr12:34435154-34435155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566355669	chr12:34435260-34435261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs56211854	chr12:34435279-34435280	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554017965	chr12:34435309-34435310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201291943	chr12:34435317-34435318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573934535	chr12:34435324-34435325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542937657	chr12:34435351-34435352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115627218	chr12:34435358-34435359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533807223	chr12:34435361-34435362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534288390	chr12:34435386-34435387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530916150	chr12:34435455-34435456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544305667	chr12:34435456-34435457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564572731	chr12:34435463-34435464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537677298	chr12:34435477-34435478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs141459384	chr12:34435506-34435507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11524949	chr12:34435551-34435552	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186090118	chr12:34435594-34435595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116919865	chr12:34435610-34435611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143381277	chr12:34435643-34435644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549250865	chr12:34435661-34435662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569478840	chr12:34435749-34435750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535190065	chr12:34435773-34435774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557063997	chr12:34435784-34435785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537819501	chr12:34435831-34435832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557484444	chr12:34435851-34435852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571279241	chr12:34435860-34435861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116124162	chr12:34435868-34435869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191346866	chr12:34435884-34435885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573869636	chr12:34435888-34435889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533450594	chr12:34435917-34435918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556473168	chr12:34435918-34435919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576277148	chr12:34435929-34435930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151261047	chr12:34435930-34435931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140442902	chr12:34435939-34435940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150392455	chr12:34435952-34435953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182580592	chr12:34435963-34435964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr12:34442200-34444000	Active TSS	K562	blood
10	chr12:34442400-34442800	Active TSS	A549	lung
11	chr12:34442800-34443200	Flanking Active TSS	A549	lung
12	chr12:34443200-34444200	Active TSS	A549	lung
13	chr12:34444000-34446000	Weak transcription	K562	blood
14	chr12:34446000-34446200	Flanking Active TSS	K562	blood
15	chr12:34446200-34446400	Enhancers	K562	blood
16	chr12:34446400-34446600	Flanking Active TSS	K562	blood
17	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
22	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
32	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:34463600-34464000	Flanking Active TSS	K562	blood
34	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr12:34464000-34465800	Weak transcription	K562	blood
36	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr12:34465800-34467000	Enhancers	K562	blood
39	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
46	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
47	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood

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