Variant report

Variant	nsv899218
Chromosome Location	chr12:67612129-67643840
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67617789..67619554-chr12:67631121..67633768,2	K562	blood:
2	chr12:67610123..67612241-chr12:67614885..67617280,3	K562	blood:
3	chr12:67555204..67555730-chr12:67616100..67616649,2	MCF-7	breast:
4	chr12:67639415..67642144-chr12:67665487..67667188,2	MCF-7	breast:
5	chr12:67634419..67636519-chr12:67662521..67664207,2	K562	blood:
6	chr12:67610123..67612241-chr12:67614885..67617280,3	K562	blood:
7	chr12:67461087..67461964-chr12:67614042..67614668,2	MCF-7	breast:
8	chr12:67631940..67638871-chr12:67661150..67664099,7	MCF-7	breast:
9	chr12:67635019..67637081-chr12:67662707..67665597,2	K562	blood:
10	chr12:67461970..67464126-chr12:67613627..67616545,3	MCF-7	breast:
11	chr12:67637186..67639100-chr12:67642554..67644545,2	MCF-7	breast:
12	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
13	chr12:67627502..67629526-chr12:67662531..67664420,2	MCF-7	breast:
14	chr12:67270133..67270911-chr12:67613617..67614322,2	MCF-7	breast:
15	chr12:67555087..67555972-chr12:67613605..67614523,4	MCF-7	breast:
16	chr12:67478228..67481093-chr12:67612107..67614735,2	MCF-7	breast:
17	chr12:67419005..67419983-chr12:67613517..67614351,5	MCF-7	breast:
18	chr12:67297065..67298731-chr12:67613597..67614634,5	MCF-7	breast:
19	chr12:67617789..67619554-chr12:67631121..67633768,2	K562	blood:
20	chr12:67462356..67464929-chr12:67612276..67614643,4	MCF-7	breast:
21	chr12:67637186..67639100-chr12:67642554..67644545,2	MCF-7	breast:
22	chr12:67461284..67462231-chr12:67613205..67614026,3	MCF-7	breast:
23	chr12:67638985..67641422-chr12:67661431..67664267,2	MCF-7	breast:
24	chr12:67418734..67420386-chr12:67615976..67617354,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions
ENSG00000111530	chromatin interactions

Extended variants
information (count: 802 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs775313	chr12:67612129-67612130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61526033	chr12:67612143-67612144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10878585	chr12:67612231-67612232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572682936	chr12:67612236-67612237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11176636	chr12:67612247-67612248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561205455	chr12:67612311-67612312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546382460	chr12:67612331-67612332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554397842	chr12:67612348-67612349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558500526	chr12:67612425-67612426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111385934	chr12:67612435-67612436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543890960	chr12:67612449-67612450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79491012	chr12:67612490-67612491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529791273	chr12:67612520-67612521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541520814	chr12:67612529-67612530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56851631	chr12:67612555-67612556	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527492532	chr12:67612563-67612564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551925087	chr12:67612591-67612592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570441667	chr12:67612598-67612599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12298847	chr12:67612683-67612684	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549950171	chr12:67612869-67612870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1866068	chr12:67612871-67612872	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535437215	chr12:67612893-67612894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150056705	chr12:67612941-67612942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74687047	chr12:67612969-67612970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540057137	chr12:67613044-67613045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12300420	chr12:67613134-67613135	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552016071	chr12:67613153-67613154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576696342	chr12:67613186-67613187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185563713	chr12:67613202-67613203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189168852	chr12:67613224-67613225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549837995	chr12:67613230-67613231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35997517	chr12:67613232-67613233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74098676	chr12:67613237-67613238	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11830563	chr12:67613241-67613242	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528118768	chr12:67613264-67613265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559837348	chr12:67613292-67613293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527363814	chr12:67613314-67613315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117138000	chr12:67613323-67613324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147754799	chr12:67613328-67613329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11832754	chr12:67613423-67613424	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116074890	chr12:67613463-67613464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192087165	chr12:67613487-67613488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568417988	chr12:67613496-67613497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11832775	chr12:67613497-67613498	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141038912	chr12:67613525-67613526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144793183	chr12:67613529-67613530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562505116	chr12:67613531-67613532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184310233	chr12:67613547-67613548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147930375	chr12:67613554-67613555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537202941	chr12:67613595-67613596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67594600-67613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:67613800-67614000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr12:67616000-67616200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:67616200-67616600	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:67616200-67617200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:67616600-67617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:67616800-67617400	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:67617000-67617200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67617000-67617400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:67617000-67617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:67625200-67625400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:67625200-67626800	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:67625200-67627000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:67625600-67626000	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:67625800-67626800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:67626000-67626200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:67626000-67626800	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:67628800-67631200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:67630400-67631400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:67630600-67630800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:67630600-67631000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:67630600-67631400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:67630600-67631400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:67630600-67631600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:67630600-67631600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:67630600-67631600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:67630600-67632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:67630800-67631200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:67630800-67631400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:67630800-67631400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:67630800-67631400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:67630800-67631400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:67630800-67631600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:67630800-67631600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:67630800-67631600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:67631000-67631400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:67631000-67631400	Enhancers	HMEC	breast
38	chr12:67631000-67631600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:67631200-67631600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:67631400-67631600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:67633200-67633600	Enhancers	A549	lung
42	chr12:67633600-67635000	Weak transcription	A549	lung
43	chr12:67634800-67635000	Enhancers	HMEC	breast
44	chr12:67635000-67635800	Enhancers	A549	lung
45	chr12:67638000-67638200	Enhancers	K562	blood
46	chr12:67638200-67639200	Weak transcription	K562	blood
47	chr12:67639200-67639800	Enhancers	K562	blood

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