Variant report

Variant	nsv558307
Chromosome Location	chr12:34436391-34605425
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	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
2	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
3	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
4	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
5	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
6	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
7	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
8	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
9	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
10	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
11	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
12	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
13	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
14	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
15	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
16	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
17	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
18	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
19	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
20	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
21	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
22	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
23	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
24	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
25	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
26	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
27	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
28	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
29	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:

No data

Extended variants
information (count: 10521 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:10521 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11053191	chr12:34436391-34436392	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530582216	chr12:34436392-34436393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531978381	chr12:34436470-34436471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551972045	chr12:34436473-34436474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11519123	chr12:34436478-34436479	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537163641	chr12:34436551-34436552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs193138519	chr12:34436592-34436593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565583047	chr12:34436622-34436623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527254281	chr12:34436624-34436625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371904216	chr12:34436627-34436628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567332425	chr12:34436661-34436662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138814674	chr12:34436701-34436702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549897601	chr12:34436708-34436709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142923277	chr12:34436727-34436728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546529387	chr12:34436743-34436744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538863079	chr12:34436755-34436756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs61275788	chr12:34436757-34436758	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572031345	chr12:34436765-34436766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544187579	chr12:34436770-34436771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533898114	chr12:34436795-34436796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553759404	chr12:34436811-34436812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573749471	chr12:34436829-34436830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113498013	chr12:34436830-34436831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535436608	chr12:34436927-34436928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576543268	chr12:34436979-34436980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144598308	chr12:34437001-34437002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550365278	chr12:34437031-34437032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114495998	chr12:34437085-34437086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568949949	chr12:34437099-34437100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184396251	chr12:34437116-34437117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148470737	chr12:34437129-34437130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549596504	chr12:34437167-34437168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569761518	chr12:34437176-34437177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76443492	chr12:34437179-34437180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73101882	chr12:34437187-34437188	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558364216	chr12:34437195-34437196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189282308	chr12:34437201-34437202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565596976	chr12:34437290-34437291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs573512832	chr12:34437300-34437301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74935192	chr12:34437348-34437349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141630824	chr12:34437375-34437376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537789797	chr12:34437431-34437432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150501924	chr12:34437442-34437443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191367901	chr12:34437450-34437451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556143427	chr12:34437475-34437476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs56980171	chr12:34437487-34437488	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114717690	chr12:34437518-34437519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559200718	chr12:34437558-34437559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139872564	chr12:34437580-34437581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35591906	chr12:34437629-34437630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

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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