Variant report

Variant	esv2762218
Chromosome Location	chr1:212046447-212087682
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:21)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212002057..212004143-chr1:212075761..212078898,3	K562	blood:
2	chr1:212074801..212076576-chr1:212084701..212087247,2	MCF-7	breast:
3	chr1:212067506..212069441-chr1:212082442..212085014,2	K562	blood:
4	chr1:212043331..212045802-chr1:212047049..212049318,2	K562	blood:
5	chr1:212054616..212057086-chr1:212058448..212060459,2	K562	blood:
6	chr1:212081479..212083275-chr1:212101212..212103097,2	K562	blood:
7	chr1:212054616..212057086-chr1:212058448..212060459,2	K562	blood:
8	chr1:212044302..212046599-chr1:212047818..212049772,2	K562	blood:
9	chr1:212055586..212057694-chr1:212058396..212059948,2	K562	blood:
10	chr1:212050300..212053150-chr1:212058245..212060178,3	K562	blood:
11	chr1:212085059..212088251-chr1:212089399..212094888,5	K562	blood:
12	chr1:212046115..212050313-chr1:212051402..212055814,5	K562	blood:
13	chr1:212074801..212076576-chr1:212084701..212087247,2	MCF-7	breast:
14	chr1:212044302..212046599-chr1:212047818..212049772,2	K562	blood:
15	chr1:212055586..212057694-chr1:212058396..212059948,2	K562	blood:
16	chr1:212046115..212050313-chr1:212051402..212055814,5	K562	blood:
17	chr1:212071600..212073818-chr1:212104650..212107451,2	K562	blood:
18	chr1:212067506..212069441-chr1:212082442..212085014,2	K562	blood:
19	chr1:212038882..212041641-chr1:212046600..212049264,2	K562	blood:
20	chr1:212087497..212090472-chr1:212113747..212115389,2	K562	blood:
21	chr1:212050300..212053150-chr1:212058245..212060178,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS7-2	chr1:212072488-212072588	NONHSAT009336
2	lnc-INTS7-2	chr1:212080694-212080795	NONHSAT009337
3	lnc-INTS7-2	chr1:212059601-212062399	NONHSAT009336

No data

Variant related genes	Relation type
ENSG00000123684	chromatin interactions
ENSG00000229258	chromatin interactions

Extended variants
information (count: 1391 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1391 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567664901	chr1:212047800-212047801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528440383	chr1:212047801-212047802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150369384	chr1:212047819-212047820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571709410	chr1:212047840-212047841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147942853	chr1:212047852-212047853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191525922	chr1:212047896-212047897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376522863	chr1:212047897-212047898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533550143	chr1:212047898-212047899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184272208	chr1:212047906-212047907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4466708	chr1:212047907-212047908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs554607544	chr1:212047914-212047915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567262553	chr1:212047940-212047941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57370359	chr1:212047960-212047961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188027708	chr1:212047969-212047970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372163270	chr1:212047975-212047976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534793332	chr1:212047984-212047985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544076014	chr1:212047996-212047997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374581653	chr1:212048007-212048008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529858116	chr1:212048010-212048011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4537651	chr1:212048060-212048061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560342761	chr1:212048065-212048066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372028930	chr1:212048115-212048116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528587983	chr1:212048135-212048136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192996809	chr1:212048143-212048144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565258256	chr1:212048152-212048153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532572356	chr1:212048258-212048259	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551221132	chr1:212048267-212048268	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150025696	chr1:212048301-212048302	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200066842	chr1:212048361-212048362	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536804120	chr1:212048382-212048383	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566724941	chr1:212048496-212048497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567092324	chr1:212048502-212048503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375960416	chr1:212048577-212048578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533624790	chr1:212048579-212048580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4623773	chr1:212048583-212048584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs369264354	chr1:212048610-212048611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576398138	chr1:212048629-212048630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145410577	chr1:212048663-212048664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149211524	chr1:212048678-212048679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539379447	chr1:212048700-212048701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558988311	chr1:212048726-212048727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184652592	chr1:212048732-212048733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542148032	chr1:212048765-212048766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190366195	chr1:212048820-212048821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34575478	chr1:212048908-212048909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572298778	chr1:212048915-212048916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145007898	chr1:212048962-212048963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191933459	chr1:212049013-212049014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572423448	chr1:212049036-212049037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6700444	chr1:212049043-212049044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212047800-212048400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:212048000-212048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:212048000-212048600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:212048000-212048600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:212048200-212048400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:212048200-212048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:212048200-212048600	Enhancers	Adipose Nuclei	Adipose
8	chr1:212048200-212048600	Enhancers	Liver	Liver
9	chr1:212048400-212049000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:212048400-212049800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:212048600-212050400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:212049800-212050200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:212050000-212050800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:212050200-212050800	Enhancers	HSMMtube	muscle
15	chr1:212050400-212050600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:212050600-212050800	Enhancers	Adipose Nuclei	Adipose
17	chr1:212052600-212052800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:212056000-212056400	Enhancers	GM12878-XiMat	blood
19	chr1:212056400-212059400	Weak transcription	GM12878-XiMat	blood
20	chr1:212057800-212059400	Enhancers	HepG2	liver
21	chr1:212058400-212058600	Enhancers	Adipose Nuclei	Adipose
22	chr1:212058400-212061800	Enhancers	Liver	Liver
23	chr1:212058600-212059200	Weak transcription	Adipose Nuclei	Adipose
24	chr1:212059000-212059600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:212059000-212059800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:212059200-212059400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:212059200-212059600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:212059200-212059800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:212059200-212060200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:212059200-212061000	Enhancers	Fetal Intestine Large	intestine
31	chr1:212059200-212061800	Enhancers	Adipose Nuclei	Adipose
32	chr1:212059400-212059600	Enhancers	Pancreas	Pancrea
33	chr1:212059400-212059800	Flanking Active TSS	HepG2	liver
34	chr1:212059400-212060000	Enhancers	Fetal Intestine Small	intestine
35	chr1:212059400-212060000	Enhancers	A549	lung
36	chr1:212059400-212060400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:212059400-212061800	Enhancers	GM12878-XiMat	blood
38	chr1:212059600-212060000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:212059600-212061000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:212059600-212061200	Weak transcription	Pancreas	Pancrea
41	chr1:212059800-212061000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:212059800-212062000	Enhancers	HepG2	liver
43	chr1:212060000-212061200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:212060000-212062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:212060000-212068600	Weak transcription	A549	lung
46	chr1:212060200-212062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:212060400-212061600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:212060600-212061600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:212061000-212061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:212061000-212061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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