Variant report

Variant	esv3446685
Chromosome Location	chr12:1819204-1825021
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1814191..1816713-chr12:1818333..1820469,2	K562	blood:
2	chr12:1824311..1826936-chr12:1833466..1835089,2	K562	blood:
3	chr12:1817233..1819242-chr12:1821456..1823051,3	K562	blood:
4	chr12:1817051..1819015-chr12:1820770..1822956,2	K562	blood:
5	chr12:1815063..1817215-chr12:1824872..1827970,3	K562	blood:
6	chr12:1817233..1819242-chr12:1821456..1823051,3	K562	blood:
7	chr12:1798783..1800757-chr12:1820278..1821875,2	K562	blood:
8	chr12:1805073..1809008-chr12:1822212..1826429,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271500	chromatin interactions
ENSG00000006831	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375138072	chr12:1819227-1819228	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534548968	chr12:1819298-1819299	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560045429	chr12:1819304-1819305	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556984663	chr12:1819358-1819359	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574218449	chr12:1819392-1819393	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371722787	chr12:1819395-1819396	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368284935	chr12:1819414-1819415	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535171096	chr12:1819439-1819440	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182243454	chr12:1819450-1819451	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186846118	chr12:1819497-1819498	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138738064	chr12:1819523-1819524	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141355031	chr12:1819534-1819535	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577601350	chr12:1819535-1819536	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111807106	chr12:1819541-1819542	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57216374	chr12:1819547-1819548	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530228275	chr12:1819549-1819550	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548353082	chr12:1819555-1819556	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6489324	chr12:1819559-1819560	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530859786	chr12:1819560-1819561	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572971881	chr12:1819563-1819564	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570449693	chr12:1819597-1819598	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150389382	chr12:1819609-1819610	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546408847	chr12:1819625-1819626	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191673836	chr12:1819626-1819627	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368640536	chr12:1819641-1819642	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556734789	chr12:1819646-1819647	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568931284	chr12:1819649-1819650	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539100528	chr12:1819691-1819692	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113903957	chr12:1819721-1819722	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577794638	chr12:1819730-1819731	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184139971	chr12:1819764-1819765	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199652922	chr12:1819781-1819782	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553614199	chr12:1819812-1819813	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564961901	chr12:1819827-1819828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577057051	chr12:1819860-1819861	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188305951	chr12:1819869-1819870	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576434655	chr12:1819881-1819882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542408624	chr12:1819892-1819893	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545341263	chr12:1819924-1819925	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544178418	chr12:1819958-1819959	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193181042	chr12:1819959-1819960	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113454694	chr12:1819970-1819971	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138142820	chr12:1819993-1819994	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34061224	chr12:1820001-1820002	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528381852	chr12:1820003-1820004	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531079599	chr12:1820024-1820025	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78693587	chr12:1820043-1820044	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549675041	chr12:1820056-1820057	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371870803	chr12:1820080-1820081	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374878890	chr12:1820083-1820084	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1801600-1823400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:1801600-1827800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:1801800-1823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:1801800-1828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:1802200-1822800	Weak transcription	Thymus	Thymus
7	chr12:1802400-1822800	Weak transcription	Fetal Thymus	thymus
8	chr12:1802400-1823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:1802400-1824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:1802400-1841200	Weak transcription	HMEC	breast
11	chr12:1806000-1840000	Weak transcription	Spleen	Spleen
12	chr12:1806200-1823400	Weak transcription	Dnd41	blood
13	chr12:1806200-1844400	Weak transcription	NHEK	skin
14	chr12:1807200-1847400	Weak transcription	Fetal Stomach	stomach
15	chr12:1807400-1822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:1807400-1823400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:1807600-1821600	Weak transcription	Ovary	ovary
18	chr12:1808200-1820400	Weak transcription	Fetal Lung	lung
19	chr12:1808200-1820400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:1808400-1830800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:1810600-1819800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:1812600-1819400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:1813200-1819400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:1813200-1823400	Weak transcription	Left Ventricle	heart
25	chr12:1814400-1825400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:1815200-1823800	Weak transcription	HSMM	muscle
27	chr12:1815200-1827800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:1816000-1821600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:1816200-1819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:1816200-1820000	Weak transcription	Pancreas	Pancrea
31	chr12:1816200-1820400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:1816200-1820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:1816200-1821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:1816200-1822000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:1816200-1822000	Weak transcription	Gastric	stomach
36	chr12:1816200-1822200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:1816200-1825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:1816200-1825400	Weak transcription	Osteobl	bone
39	chr12:1816200-1836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:1816200-1849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
43	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
44	chr12:1816400-1820000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:1816400-1820400	Weak transcription	K562	blood
46	chr12:1816400-1820600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:1816400-1820800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:1816400-1822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:1816400-1823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:1816400-1824600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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