Variant report

Variant	nsv1042743
Chromosome Location	chr12:34447907-34559297
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	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
2	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
3	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
4	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
5	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
6	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
7	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
8	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
9	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
10	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
11	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
12	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
13	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
14	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
15	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
16	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
17	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
18	chr12:34480099..34482680-chr12:34485043..34486658,2	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	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
23	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
24	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
25	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
26	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:

No data

Extended variants
information (count: 8016 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8016 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558115161	chr12:34447939-34447940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577141852	chr12:34447962-34447963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs192988723	chr12:34447967-34447968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553150127	chr12:34447981-34447982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564499251	chr12:34448007-34448008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372241194	chr12:34448020-34448021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573289188	chr12:34448029-34448030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147463947	chr12:34448037-34448038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549043736	chr12:34448038-34448039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375602155	chr12:34448047-34448048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531043373	chr12:34448058-34448059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528581932	chr12:34448076-34448077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376421897	chr12:34448103-34448104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369723908	chr12:34448104-34448105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373344687	chr12:34448107-34448108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376518820	chr12:34448108-34448109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370145054	chr12:34448126-34448127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373316695	chr12:34448137-34448138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377703796	chr12:34448138-34448139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371191473	chr12:34448139-34448140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374700550	chr12:34448147-34448148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74074326	chr12:34448192-34448193	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185100225	chr12:34448208-34448209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546579668	chr12:34448214-34448215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566392651	chr12:34448230-34448231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528989713	chr12:34448244-34448245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549134050	chr12:34448245-34448246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367676221	chr12:34448256-34448257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374427333	chr12:34448260-34448261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569053138	chr12:34448267-34448268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371804230	chr12:34448268-34448269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538063515	chr12:34448290-34448291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114752998	chr12:34448301-34448302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571525329	chr12:34448414-34448415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539400963	chr12:34448415-34448416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547113418	chr12:34448428-34448429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187601697	chr12:34448451-34448452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573194844	chr12:34448452-34448453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541904258	chr12:34448456-34448457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111456495	chr12:34448457-34448458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575405043	chr12:34448459-34448460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372143790	chr12:34448497-34448498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544417296	chr12:34448513-34448514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116252345	chr12:34448559-34448560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192237853	chr12:34448560-34448561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7976083	chr12:34448594-34448595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112113695	chr12:34448602-34448603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553181340	chr12:34448608-34448609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371505162	chr12:34448629-34448630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61426370	chr12:34448630-34448631	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
11	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
16	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:34463600-34464000	Flanking Active TSS	K562	blood
18	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
19	chr12:34464000-34465800	Weak transcription	K562	blood
20	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr12:34465800-34467000	Enhancers	K562	blood
23	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
30	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
31	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
35	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:34486200-34487000	Enhancers	K562	blood
37	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
38	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:34487000-34487800	Weak transcription	K562	blood
40	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
41	chr12:34487800-34488600	Active TSS	K562	blood
42	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
43	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
44	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:34488600-34488800	Flanking Active TSS	K562	blood
46	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr12:34488800-34489000	Active TSS	K562	blood
48	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
49	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
50	chr12:34489000-34490600	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links