Variant report

Variant	esv2756107
Chromosome Location	chr2:50307245-50440043
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:
2	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
3	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:
4	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:
5	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:
6	chr2:50315921..50317708-chr2:50317822..50319427,2	K562	blood:
7	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:
8	chr2:50393318..50395919-chr2:50456799..50459520,2	K562	blood:
9	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
10	chr2:49173436..49174023-chr2:50371199..50372057,2	MCF-7	breast:
11	chr2:50315921..50317708-chr2:50317822..50319427,2	K562	blood:
12	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
13	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
14	chr17:57913850..57916261-chr2:50331209..50333765,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 3630 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3630 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193173759	chr2:50313601-50313602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573076908	chr2:50313603-50313604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140048277	chr2:50313620-50313621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561602170	chr2:50313635-50313636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528988896	chr2:50313721-50313722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543825340	chr2:50313737-50313738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562495548	chr2:50313760-50313761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533006549	chr2:50313792-50313793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551681044	chr2:50313804-50313805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1563024	chr2:50313811-50313812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4641977	chr2:50313837-50313838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370410687	chr2:50313847-50313848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116667620	chr2:50313866-50313867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568414402	chr2:50313894-50313895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535953356	chr2:50313905-50313906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73932919	chr2:50313912-50313913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149350594	chr2:50313922-50313923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539473125	chr2:50313937-50313938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558011593	chr2:50313939-50313940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72832037	chr2:50313947-50313948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368777712	chr2:50313959-50313960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34236680	chr2:50313960-50313961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7580601	chr2:50313972-50313973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73932920	chr2:50313982-50313983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73932921	chr2:50313983-50313984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3046671	chr2:50313987-50313988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4032305	chr2:50313988-50313989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1563025	chr2:50313989-50313990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540427025	chr2:50314020-50314021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1563026	chr2:50314038-50314039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550908744	chr2:50314089-50314090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1563027	chr2:50314099-50314100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377304689	chr2:50314118-50314119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576583847	chr2:50314120-50314121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544292176	chr2:50314122-50314123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371874747	chr2:50314131-50314132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532014749	chr2:50314151-50314152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552167926	chr2:50314174-50314175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539271722	chr2:50314196-50314197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117722848	chr2:50314197-50314198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72891470	chr2:50314272-50314273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369222061	chr2:50314307-50314308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545039656	chr2:50314338-50314339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144709366	chr2:50314382-50314383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527585172	chr2:50314418-50314419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184385999	chr2:50314441-50314442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573037101	chr2:50314450-50314451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12473119	chr2:50314455-50314456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374819688	chr2:50314466-50314467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569043179	chr2:50314473-50314474	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	23813976	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	chr2:50313600-50315000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:50315600-50317800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50317800-50318600	Strong transcription	Brain Germinal Matrix	brain
4	chr2:50318600-50319200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:50318600-50320200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50319200-50329800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:50319400-50319800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:50323800-50325400	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:50324000-50325800	Enhancers	Colon Smooth Muscle	Colon
10	chr2:50324200-50324600	Enhancers	Fetal Heart	heart
11	chr2:50324200-50325600	Enhancers	Fetal Stomach	stomach
12	chr2:50328800-50329000	Enhancers	Fetal Brain Female	brain
13	chr2:50329200-50330400	Enhancers	Fetal Brain Male	brain
14	chr2:50329800-50330000	Enhancers	Fetal Brain Female	brain
15	chr2:50329800-50331000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:50330400-50345600	Weak transcription	Fetal Brain Male	brain
17	chr2:50331600-50331800	Enhancers	Fetal Brain Female	brain
18	chr2:50335800-50336000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:50336000-50336200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:50336000-50338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:50336200-50338200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:50336600-50336800	Enhancers	Fetal Heart	heart
23	chr2:50336800-50337000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:50336800-50337800	Weak transcription	Fetal Heart	heart
25	chr2:50337000-50337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:50337000-50337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:50337200-50337400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:50337200-50337400	Enhancers	Brain Angular Gyrus	brain
29	chr2:50337400-50337600	Enhancers	Left Ventricle	heart
30	chr2:50337400-50338400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:50337600-50338200	Weak transcription	Left Ventricle	heart
33	chr2:50337800-50339000	Enhancers	Fetal Heart	heart
34	chr2:50337800-50339400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:50338200-50338400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:50338200-50338800	Enhancers	Left Ventricle	heart
37	chr2:50338400-50338800	Enhancers	Brain Angular Gyrus	brain
38	chr2:50338400-50339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:50338400-50343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:50339200-50342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:50339400-50343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:50340200-50340400	Enhancers	Fetal Intestine Large	intestine
43	chr2:50340400-50342600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:50342600-50342800	Enhancers	Fetal Intestine Large	intestine
45	chr2:50342600-50343000	Enhancers	Small Intestine	intestine
46	chr2:50342600-50346000	Enhancers	Fetal Intestine Small	intestine
47	chr2:50342800-50343600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:50342800-50345800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:50343000-50343400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:50343000-50343400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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