Variant report

Variant	esv1792928
Chromosome Location	chr2:38955865-38968842
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
2	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
3	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
4	chr2:38820056..38822885-chr2:38968180..38969856,2	MCF-7	breast:
5	chr2:38830274..38832898-chr2:38967361..38970126,3	K562	blood:
6	chr2:38806248..38808565-chr2:38954475..38956582,2	K562	blood:
7	chr2:38778308..38780052-chr2:38967008..38969234,2	K562	blood:
8	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:
9	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
10	chr2:38890926..38894484-chr2:38966717..38969696,3	K562	blood:
11	chr2:38778308..38782276-chr2:38966801..38969709,4	K562	blood:
12	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
13	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
14	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
15	chr2:38968377..38971030-chr2:39036081..39038951,2	K562	blood:
16	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
17	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:
18	chr2:38761614..38763492-chr2:38966918..38968538,2	K562	blood:
19	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
20	chr2:38800582..38805538-chr2:38967531..38972325,7	K562	blood:
21	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
22	chr2:38783818..38787523-chr2:38967718..38971056,4	K562	blood:
23	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
24	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
25	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
26	chr2:38950132..38952151-chr2:38956554..38959124,2	MCF-7	breast:
27	chr2:38828482..38830081-chr2:38959059..38962249,3	MCF-7	breast:
28	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
29	chr2:38968077..38970035-chr2:38995563..38997615,2	K562	blood:
30	chr2:38824026..38825901-chr2:38962946..38965190,2	K562	blood:
31	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
32	chr2:38966114..38968421-chr2:39005419..39007550,2	MCF-7	breast:
33	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
34	chr2:38812717..38814581-chr2:38964015..38965559,2	K562	blood:
35	chr2:38601784..38603879-chr2:38964621..38966916,2	K562	blood:
36	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
37	chr2:38781085..38783046-chr2:38956281..38958070,2	K562	blood:
38	chr2:38763105..38763665-chr2:38968175..38968815,2	MCF-7	breast:
39	chr2:38891654..38895079-chr2:38966717..38969696,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143889	chromatin interactions
ENSG00000271443	chromatin interactions
ENSG00000143891	chromatin interactions
ENSG00000223922	chromatin interactions
ENSG00000232114	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000235586	chromatin interactions

Extended variants
information (count: 604 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540898208	chr2:38955865-38955866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6728394	chr2:38955866-38955867	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191934864	chr2:38955875-38955876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532175965	chr2:38955881-38955882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377460936	chr2:38955896-38955897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6756847	chr2:38955977-38955978	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs11427252	chr2:38956002-38956003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397805090	chr2:38956003-38956004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78843314	chr2:38956004-38956005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111361875	chr2:38956015-38956016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6731386	chr2:38956076-38956077	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566522668	chr2:38956108-38956109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368362341	chr2:38956137-38956138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183893341	chr2:38956142-38956143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370321229	chr2:38956184-38956185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552089740	chr2:38956188-38956189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7581263	chr2:38956220-38956221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs534942539	chr2:38956243-38956244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557025341	chr2:38956308-38956309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144753604	chr2:38956309-38956310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569341527	chr2:38956319-38956320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536314726	chr2:38956360-38956361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7581653	chr2:38956399-38956400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs573502835	chr2:38956421-38956422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3112161	chr2:38956463-38956464	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs151308437	chr2:38956467-38956468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552293011	chr2:38956492-38956493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3084495	chr2:38956504-38956505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373260672	chr2:38956505-38956506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139194302	chr2:38956512-38956513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149940496	chr2:38956514-38956515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397690555	chr2:38956524-38956525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577569279	chr2:38956545-38956546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570573132	chr2:38956605-38956606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373258222	chr2:38956657-38956658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372545792	chr2:38956684-38956685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376778218	chr2:38956685-38956686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544238291	chr2:38956690-38956691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140688063	chr2:38956738-38956739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369381673	chr2:38956759-38956760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374958454	chr2:38956780-38956781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139320905	chr2:38956836-38956837	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369978797	chr2:38956861-38956862	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373416313	chr2:38956865-38956866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562314428	chr2:38956936-38956937	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2272445	chr2:38956947-38956948	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs568232671	chr2:38956953-38956954	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541589389	chr2:38956987-38956988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567289261	chr2:38956995-38956996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201972013	chr2:38957027-38957028	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
6	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:38930600-38965000	Weak transcription	Gastric	stomach
8	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
12	chr2:38937200-38956600	Weak transcription	Fetal Brain Female	brain
13	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:38939000-38956600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:38939200-38958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:38943600-38956000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:38943600-38958600	Weak transcription	Aorta	Aorta
18	chr2:38946400-38957000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:38948000-38958600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:38948200-38956600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:38948200-38956600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:38948200-38956600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:38948200-38957000	Weak transcription	Spleen	Spleen
24	chr2:38948200-38958600	Weak transcription	Esophagus	oesophagus
25	chr2:38948200-38968200	Weak transcription	Stomach Mucosa	stomach
26	chr2:38948400-38956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:38948400-38958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:38948400-38958800	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:38948400-38964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:38948400-38964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:38948400-38970600	Weak transcription	NHEK	skin
32	chr2:38948600-38956600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:38948600-38956800	Weak transcription	Brain Anterior Caudate	brain
34	chr2:38948600-38957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:38948600-38959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:38948600-38970200	Weak transcription	NHDF-Ad	bronchial
37	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
38	chr2:38948800-38956600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:38948800-38956600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:38948800-38956800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:38948800-38957000	Weak transcription	Lung	lung
42	chr2:38948800-38960200	Weak transcription	Hela-S3	cervix
43	chr2:38948800-38960600	Weak transcription	Brain Angular Gyrus	brain
44	chr2:38948800-38964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:38949000-38956800	Weak transcription	Ovary	ovary
46	chr2:38949000-38958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:38949000-38965000	Weak transcription	Right Ventricle	heart
48	chr2:38949600-38956800	Weak transcription	Osteobl	bone
49	chr2:38949800-38956600	Weak transcription	Adipose Nuclei	Adipose
50	chr2:38949800-38956600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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