Variant report

Variant	nsv558570
Chromosome Location	chr12:38242029-38465461
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:38444806..38446368-chr16:33959419..33960990,2	MCF-7	breast:
2	chr12:38444829..38445449-chr2:133022690..133023552,2	MCF-7	breast:
3	chr12:38444887..38445591-chr16:33959228..33959997,3	MCF-7	breast:
4	chr12:38444870..38446396-chr2:133021688..133023192,2	K562	blood:
5	chr12:34405769..34407368-chr12:38464924..38466718,2	K562	blood:
6	chr12:38444306..38445077-chr21:37485779..37486279,2	MCF-7	breast:
7	chr12:38447143..38447662-chr2:133026232..133026787,2	MCF-7	breast:
8	chr12:38444597..38445444-chr16:33958723..33959994,4	MCF-7	breast:
9	chr12:38444870..38446430-chr16:33959034..33960923,3	MCF-7	breast:
10	chr12:38464739..38465619-chr4:45719335..45720093,2	MCF-7	breast:
11	chr12:38450015..38451840-chr2:133028967..133030976,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE8-8	chr12:38447469-38447570	NONHSAT027671
2	lnc-CPNE8-8	chr12:38450354-38450755	NONHSAT027671
3	lnc-ALG10B-6	chr12:38449724-38450322	NONHSAT027672
4	lnc-ALG10B-6	chr12:38451526-38451849	NONHSAT027672

No data

Extended variants
information (count: 14134 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:14134 , 50 per page) page: 1 2 3 4 5 6 7 ... 283

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12306932	chr12:38242029-38242030	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571891029	chr12:38242034-38242035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534505137	chr12:38242041-38242042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554459223	chr12:38242047-38242048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574307291	chr12:38242077-38242078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182362831	chr12:38242099-38242100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117362998	chr12:38242103-38242104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148476382	chr12:38242118-38242119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112579001	chr12:38242126-38242127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201139359	chr12:38242142-38242143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142729427	chr12:38242147-38242148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564884921	chr12:38242158-38242159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571905650	chr12:38242162-38242163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540929997	chr12:38242164-38242165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558700959	chr12:38242165-38242166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs560820700	chr12:38242167-38242168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529874711	chr12:38242169-38242170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113937155	chr12:38242172-38242173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376253292	chr12:38242182-38242183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549544544	chr12:38242196-38242197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150560023	chr12:38242228-38242229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531822393	chr12:38242265-38242266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551547187	chr12:38242266-38242267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571621807	chr12:38242276-38242277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534156684	chr12:38242279-38242280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548127198	chr12:38242280-38242281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567942749	chr12:38242297-38242298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78067579	chr12:38242299-38242300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556711571	chr12:38242301-38242302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576093882	chr12:38242305-38242306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186090119	chr12:38242307-38242308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558320816	chr12:38242318-38242319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79122030	chr12:38242346-38242347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2387315	chr12:38242360-38242361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs112307372	chr12:38242365-38242366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141246556	chr12:38242367-38242368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144996931	chr12:38242371-38242372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111263897	chr12:38242392-38242393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190948927	chr12:38242410-38242411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545919122	chr12:38242414-38242415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147569236	chr12:38242418-38242419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs61471914	chr12:38242463-38242464	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540304379	chr12:38242465-38242466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559140328	chr12:38242470-38242471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570953936	chr12:38242494-38242495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143838935	chr12:38242508-38242509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568004153	chr12:38242526-38242527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79641693	chr12:38242530-38242531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs202095972	chr12:38242542-38242543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141018613	chr12:38242545-38242546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	21272361	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38233000-38243400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:38238800-38242400	ZNF genes & repeats	Liver	Liver
3	chr12:38242200-38249000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:38242600-38243400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr12:38242800-38243400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:38246600-38248400	Weak transcription	Right Atrium	heart
7	chr12:38247800-38249000	ZNF genes & repeats	Liver	Liver
8	chr12:38247800-38249000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr12:38247800-38250000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr12:38248000-38249000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:38248200-38248400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:38248200-38248400	Enhancers	Aorta	Aorta
13	chr12:38248200-38248400	Enhancers	Thymus	Thymus
14	chr12:38248200-38248800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:38248200-38248800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr12:38248200-38248800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr12:38248200-38248800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:38248200-38248800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr12:38248200-38248800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:38248200-38248800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr12:38248200-38248800	ZNF genes & repeats	Left Ventricle	heart
22	chr12:38248200-38249000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr12:38248400-38248600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:38248400-38248600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
25	chr12:38248400-38248600	Active TSS	Right Ventricle	heart
26	chr12:38248400-38248800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr12:38248400-38248800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:38248400-38248800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr12:38248400-38248800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:38248400-38248800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:38248400-38248800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:38248400-38248800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:38248400-38248800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr12:38248400-38248800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:38248400-38248800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:38248400-38248800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:38248400-38248800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:38248400-38248800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:38248400-38248800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:38248400-38248800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:38248400-38248800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:38248400-38248800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr12:38248400-38248800	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr12:38248400-38248800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr12:38248400-38248800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr12:38248400-38248800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr12:38248400-38248800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:38248400-38248800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
49	chr12:38248400-38248800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
50	chr12:38248400-38248800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood

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