Variant report

Variant	nsv1037602
Chromosome Location	chr12:34457196-34854486
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	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
2	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
3	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
4	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
5	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
6	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
7	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
8	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
9	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
10	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
11	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
12	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
13	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
14	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
15	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
16	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
17	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
18	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
19	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
20	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
21	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
22	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
23	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
24	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
25	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
26	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
27	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
28	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
29	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
30	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
31	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
32	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
33	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
34	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
35	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
36	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:

No data

Extended variants
information (count: 26196 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:26196 , 50 per page) page: 1 2 3 4 5 6 7 ... 524

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543384337	chr12:34457199-34457200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111864505	chr12:34457231-34457232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576524579	chr12:34457234-34457235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9739724	chr12:34457254-34457255	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565389757	chr12:34457257-34457258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577516580	chr12:34457259-34457260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs527836932	chr12:34457293-34457294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541613230	chr12:34457328-34457329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561366213	chr12:34457351-34457352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377198890	chr12:34457380-34457381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550235272	chr12:34457393-34457394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370159036	chr12:34457397-34457398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531996903	chr12:34457424-34457425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551806987	chr12:34457433-34457434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs527291448	chr12:34457483-34457484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11837290	chr12:34457495-34457496	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370295236	chr12:34457502-34457503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7313094	chr12:34457508-34457509	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141039210	chr12:34457518-34457519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs115926648	chr12:34457527-34457528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537322471	chr12:34457538-34457539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs114095107	chr12:34457546-34457547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117115891	chr12:34457547-34457548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549001931	chr12:34457581-34457582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146088717	chr12:34457587-34457588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150235033	chr12:34457638-34457639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376952683	chr12:34457641-34457642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140698110	chr12:34457642-34457643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541201991	chr12:34457653-34457654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183799494	chr12:34457654-34457655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs574957532	chr12:34457661-34457662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576400528	chr12:34457663-34457664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs370338699	chr12:34457675-34457676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373977341	chr12:34457682-34457683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567424661	chr12:34457690-34457691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532712479	chr12:34457694-34457695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551745585	chr12:34457696-34457697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559119766	chr12:34457700-34457701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528164930	chr12:34457702-34457703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145656527	chr12:34457705-34457706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534417194	chr12:34457788-34457789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138193165	chr12:34457831-34457832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536861275	chr12:34457833-34457834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149600760	chr12:34457861-34457862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570759200	chr12:34457870-34457871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143283381	chr12:34457876-34457877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148313751	chr12:34457898-34457899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141259298	chr12:34457900-34457901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538956715	chr12:34457913-34457914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7297334	chr12:34457918-34457919	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
7	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:34463600-34464000	Flanking Active TSS	K562	blood
9	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr12:34464000-34465800	Weak transcription	K562	blood
11	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr12:34465800-34467000	Enhancers	K562	blood
14	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
21	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
22	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
26	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:34486200-34487000	Enhancers	K562	blood
28	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
29	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:34487000-34487800	Weak transcription	K562	blood
31	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
32	chr12:34487800-34488600	Active TSS	K562	blood
33	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
34	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
35	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:34488600-34488800	Flanking Active TSS	K562	blood
37	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr12:34488800-34489000	Active TSS	K562	blood
39	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
40	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
41	chr12:34489000-34490600	Flanking Active TSS	K562	blood
42	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
43	chr12:34490600-34490800	Enhancers	K562	blood
44	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
45	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:34492400-34493200	Bivalent Enhancer	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links