Variant report

Variant	nsv558314
Chromosome Location	chr12:34498414-34854303
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

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

No data

Extended variants
information (count: 23396 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:23396 , 50 per page) page: 1 2 3 4 5 6 7 ... 468

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11836224	chr12:34498414-34498415	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558621001	chr12:34498422-34498423	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572116658	chr12:34498452-34498453	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559245671	chr12:34498472-34498473	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568627703	chr12:34498480-34498481	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541206955	chr12:34498494-34498495	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560956202	chr12:34498512-34498513	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145620143	chr12:34498513-34498514	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543356345	chr12:34498517-34498518	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529602805	chr12:34498539-34498540	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562502913	chr12:34498553-34498554	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138354156	chr12:34498571-34498572	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550655668	chr12:34498572-34498573	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369370878	chr12:34498638-34498639	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527814605	chr12:34498667-34498668	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374301168	chr12:34498681-34498682	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567810224	chr12:34498709-34498710	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377736458	chr12:34498737-34498738	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11831665	chr12:34498740-34498741	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556902194	chr12:34498756-34498757	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142835847	chr12:34498764-34498765	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374941814	chr12:34498778-34498779	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539535098	chr12:34498786-34498787	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74789227	chr12:34498806-34498807	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558332957	chr12:34498812-34498813	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572087409	chr12:34498856-34498857	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540817447	chr12:34498872-34498873	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112640568	chr12:34498896-34498897	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554742614	chr12:34498911-34498912	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574303893	chr12:34498938-34498939	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35921157	chr12:34498968-34498969	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191415630	chr12:34498979-34498980	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575995884	chr12:34499009-34499010	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545372629	chr12:34499044-34499045	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570288070	chr12:34499101-34499102	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565161605	chr12:34499104-34499105	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139565018	chr12:34499110-34499111	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547616445	chr12:34499114-34499115	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112900738	chr12:34499125-34499126	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530318263	chr12:34499170-34499171	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149287392	chr12:34499248-34499249	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570376825	chr12:34499258-34499259	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552764882	chr12:34499266-34499267	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539371066	chr12:34499271-34499272	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552149658	chr12:34499294-34499295	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565583271	chr12:34499304-34499305	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372486101	chr12:34499315-34499316	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571064688	chr12:34499374-34499375	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376442109	chr12:34499404-34499405	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11832283	chr12:34499419-34499420	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34495200-34499400	Bivalent Enhancer	Placenta	Placenta
4	chr12:34497400-34512800	ZNF genes & repeats	Fetal Stomach	stomach
5	chr12:34497600-34499000	Enhancers	K562	blood
6	chr12:34498400-34499200	Bivalent/Poised TSS	HepG2	liver
7	chr12:34498400-34500800	Active TSS	A549	lung
8	chr12:34498600-34504400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr12:34498800-34500200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr12:34499000-34499800	Flanking Active TSS	K562	blood
11	chr12:34499200-34500000	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr12:34499800-34500400	Active TSS	K562	blood
13	chr12:34500000-34500400	Bivalent Enhancer	HepG2	liver
14	chr12:34500400-34500600	Bivalent Enhancer	Placenta	Placenta
15	chr12:34500400-34501600	Flanking Active TSS	K562	blood
16	chr12:34500800-34501200	Flanking Active TSS	A549	lung
17	chr12:34501200-34502200	Active TSS	A549	lung
18	chr12:34501400-34502600	Active TSS	HepG2	liver
19	chr12:34501600-34501800	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr12:34501600-34502200	Active TSS	K562	blood
21	chr12:34501600-34504000	Bivalent Enhancer	Placenta	Placenta
22	chr12:34502200-34503000	Flanking Active TSS	A549	lung
23	chr12:34502200-34504200	Flanking Active TSS	K562	blood
24	chr12:34502600-34503400	Weak transcription	HepG2	liver
25	chr12:34502800-34503400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:34503000-34503200	Flanking Bivalent TSS/Enh	A549	lung
27	chr12:34503200-34503400	Flanking Active TSS	A549	lung
28	chr12:34503400-34503600	Active TSS	A549	lung
29	chr12:34503400-34503800	Active TSS	HepG2	liver
30	chr12:34503600-34503800	Bivalent/Poised TSS	A549	lung
31	chr12:34503800-34504200	Flanking Bivalent TSS/Enh	A549	lung
32	chr12:34504200-34504600	Bivalent Enhancer	A549	lung
33	chr12:34504200-34504600	Enhancers	K562	blood
34	chr12:34504200-34516200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr12:34504600-34506000	Weak transcription	K562	blood
36	chr12:34505000-34505200	Bivalent/Poised TSS	A549	lung
37	chr12:34505200-34505600	Active TSS	A549	lung
38	chr12:34505400-34505600	Bivalent Enhancer	Placenta	Placenta
39	chr12:34505600-34507800	Weak transcription	A549	lung
40	chr12:34506000-34506400	Enhancers	K562	blood
41	chr12:34506400-34507600	Weak transcription	K562	blood
42	chr12:34506800-34507000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:34507600-34508400	Bivalent Enhancer	Placenta	Placenta
44	chr12:34507600-34509200	Enhancers	K562	blood
45	chr12:34507800-34508000	Active TSS	A549	lung
46	chr12:34507800-34509600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr12:34508000-34508200	Bivalent/Poised TSS	HepG2	liver
48	chr12:34508000-34508600	Flanking Active TSS	A549	lung
49	chr12:34508200-34509200	Bivalent Enhancer	HepG2	liver
50	chr12:34508200-34526400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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