Variant report

Variant	nsv1042328
Chromosome Location	chr12:67573942-67617106
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
2	chr12:67610123..67612241-chr12:67614885..67617280,3	K562	blood:
3	chr12:67418734..67420386-chr12:67615976..67617354,5	MCF-7	breast:
4	chr12:67555087..67555972-chr12:67613605..67614523,4	MCF-7	breast:
5	chr12:67599661..67601633-chr12:67605002..67607357,2	K562	blood:
6	chr12:67610123..67612241-chr12:67614885..67617280,3	K562	blood:
7	chr12:67461087..67461964-chr12:67614042..67614668,2	MCF-7	breast:
8	chr12:67419005..67419983-chr12:67613517..67614351,5	MCF-7	breast:
9	chr12:67297065..67298731-chr12:67613597..67614634,5	MCF-7	breast:
10	chr12:67555204..67555730-chr12:67616100..67616649,2	MCF-7	breast:
11	chr12:67593545..67595294-chr12:67601266..67602833,2	K562	blood:
12	chr12:67478228..67481093-chr12:67612107..67614735,2	MCF-7	breast:
13	chr12:67599661..67601633-chr12:67605002..67607357,2	K562	blood:
14	chr12:67270133..67270911-chr12:67613617..67614322,2	MCF-7	breast:
15	chr12:67597888..67601580-chr12:67602768..67605559,3	MCF-7	breast:
16	chr12:67462356..67464929-chr12:67612276..67614643,4	MCF-7	breast:
17	chr12:67593545..67595294-chr12:67601266..67602833,2	K562	blood:
18	chr12:67461970..67464126-chr12:67613627..67616545,3	MCF-7	breast:
19	chr12:67461284..67462231-chr12:67613205..67614026,3	MCF-7	breast:
20	chr12:67597888..67601580-chr12:67602768..67605559,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 979 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200688357	chr12:67578404-67578405	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111674952	chr12:67578418-67578419	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113954158	chr12:67578421-67578422	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559407673	chr12:67578430-67578431	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372285649	chr12:67578433-67578434	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548949053	chr12:67578448-67578449	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186180254	chr12:67578454-67578455	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532040024	chr12:67578457-67578458	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368566690	chr12:67578486-67578487	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375600847	chr12:67578494-67578495	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139802896	chr12:67578495-67578496	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368721860	chr12:67578607-67578608	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs527540102	chr12:67578614-67578615	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs552289993	chr12:67578616-67578617	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs190627966	chr12:67578622-67578623	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs570486358	chr12:67578637-67578638	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs142975895	chr12:67578638-67578639	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs182847280	chr12:67578648-67578649	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs188441856	chr12:67578664-67578665	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs565540049	chr12:67578690-67578691	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs373633697	chr12:67578707-67578708	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs201510937	chr12:67578710-67578711	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs191182654	chr12:67578737-67578738	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs572785400	chr12:67578750-67578751	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs181762013	chr12:67585806-67585807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149739318	chr12:67585866-67585867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532480054	chr12:67585871-67585872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552215631	chr12:67585892-67585893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570444647	chr12:67585920-67585921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557320161	chr12:67585960-67585961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537570713	chr12:67585996-67585997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186530809	chr12:67586014-67586015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574586048	chr12:67586032-67586033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535647531	chr12:67586034-67586035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145660202	chr12:67586042-67586043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1866256	chr12:67586044-67586045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545659880	chr12:67586088-67586089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564175977	chr12:67586119-67586120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34616226	chr12:67586122-67586123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148906931	chr12:67586143-67586144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1866255	chr12:67586175-67586176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538692423	chr12:67586186-67586187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143534486	chr12:67586229-67586230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79694311	chr12:67586239-67586240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548028757	chr12:67586265-67586266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369786933	chr12:67586285-67586286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1344930	chr12:67586289-67586290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574591780	chr12:67586291-67586292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558517131	chr12:67586307-67586308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567590936	chr12:67586376-67586377	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Lung adenocarcinoma	17982442	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67578400-67578600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:67578400-67578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:67578600-67578800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr12:67585800-67586800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:67586200-67586600	Enhancers	Brain Germinal Matrix	brain
6	chr12:67591400-67591600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:67591800-67592800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:67591800-67593600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:67592800-67593200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:67593000-67593200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:67593600-67594000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:67593800-67595000	Enhancers	Fetal Intestine Small	intestine
13	chr12:67594000-67594200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:67594200-67595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:67594400-67594600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:67594600-67613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:67594800-67596400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:67595000-67595400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:67595400-67596200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:67595600-67596600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:67595800-67596200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:67595800-67596400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:67596000-67596200	Enhancers	GM12878-XiMat	blood
24	chr12:67596200-67596800	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:67596200-67597000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:67596800-67597000	Enhancers	GM12878-XiMat	blood
27	chr12:67598200-67601800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:67600200-67602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:67601800-67602200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:67602000-67602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:67602000-67602800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:67602400-67603200	Active TSS	Right Atrium	heart
33	chr12:67602800-67603000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:67603000-67603200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:67604600-67605400	Enhancers	HepG2	liver
36	chr12:67613800-67614000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr12:67616000-67616200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:67616200-67616600	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:67616200-67617200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:67616600-67617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:67616800-67617400	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:67617000-67617200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:67617000-67617400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:67617000-67617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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