Variant report

Variant	esv1837294
Chromosome Location	chr2:38955129-38965076
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
2	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
3	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
4	chr2:38824026..38825901-chr2:38962946..38965190,2	K562	blood:
5	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
6	chr2:38601784..38603879-chr2:38964621..38966916,2	K562	blood:
7	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
8	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
9	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
10	chr2:38812717..38814581-chr2:38964015..38965559,2	K562	blood:
11	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
12	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
13	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
14	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
15	chr2:38806248..38808565-chr2:38954475..38956582,2	K562	blood:
16	chr2:38824669..38828895-chr2:38950792..38955552,5	K562	blood:
17	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
18	chr2:38950132..38952151-chr2:38956554..38959124,2	MCF-7	breast:
19	chr2:38781085..38783046-chr2:38956281..38958070,2	K562	blood:
20	chr2:38828482..38830081-chr2:38959059..38962249,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119787	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000271443	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7603676	chr2:38955129-38955130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6727533	chr2:38955153-38955154	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149807829	chr2:38955168-38955169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146330536	chr2:38955176-38955177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570658337	chr2:38955202-38955203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567001956	chr2:38955206-38955207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528731214	chr2:38955219-38955220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7603821	chr2:38955258-38955259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs386645149	chr2:38955261-38955262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532264789	chr2:38955345-38955346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189911638	chr2:38955365-38955366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182240059	chr2:38955419-38955420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369881625	chr2:38955426-38955427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7604054	chr2:38955451-38955452	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553746583	chr2:38955455-38955456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7604132	chr2:38955468-38955469	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548035273	chr2:38955472-38955473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373566678	chr2:38955525-38955526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377334655	chr2:38955527-38955528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528393893	chr2:38955534-38955535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11464719	chr2:38955535-38955536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200016092	chr2:38955544-38955545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs397943735	chr2:38955546-38955547	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200412595	chr2:38955547-38955548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201504355	chr2:38955548-38955549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576065006	chr2:38955602-38955603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533805147	chr2:38955605-38955606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3108666	chr2:38955665-38955666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149223351	chr2:38955756-38955757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538631945	chr2:38955759-38955760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111401006	chr2:38955762-38955763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188004785	chr2:38955777-38955778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543209265	chr2:38955782-38955783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554822876	chr2:38955784-38955785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573495441	chr2:38955792-38955793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374888995	chr2:38955809-38955810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201331756	chr2:38955828-38955829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs70954748	chr2:38955857-38955858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540898208	chr2:38955865-38955866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6728394	chr2:38955866-38955867	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191934864	chr2:38955875-38955876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532175965	chr2:38955881-38955882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377460936	chr2:38955896-38955897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6756847	chr2:38955977-38955978	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs11427252	chr2:38956002-38956003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397805090	chr2:38956003-38956004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78843314	chr2:38956004-38956005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111361875	chr2:38956015-38956016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6731386	chr2:38956076-38956077	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs566522668	chr2:38956108-38956109	Weak transcription Strong transcription	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:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr2:38948000-38955800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:38948000-38958600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:38948200-38956600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:38948200-38956600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:38948200-38956600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:38948200-38957000	Weak transcription	Spleen	Spleen
25	chr2:38948200-38958600	Weak transcription	Esophagus	oesophagus
26	chr2:38948200-38968200	Weak transcription	Stomach Mucosa	stomach
27	chr2:38948400-38956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:38948400-38958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:38948400-38958800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:38948400-38964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:38948400-38964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:38948400-38970600	Weak transcription	NHEK	skin
33	chr2:38948600-38956600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:38948600-38956800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:38948600-38957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:38948600-38959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:38948600-38970200	Weak transcription	NHDF-Ad	bronchial
38	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
39	chr2:38948800-38956600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:38948800-38956600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:38948800-38956800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:38948800-38957000	Weak transcription	Lung	lung
43	chr2:38948800-38960200	Weak transcription	Hela-S3	cervix
44	chr2:38948800-38960600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:38948800-38964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:38949000-38956800	Weak transcription	Ovary	ovary
47	chr2:38949000-38958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:38949000-38965000	Weak transcription	Right Ventricle	heart
49	chr2:38949600-38956800	Weak transcription	Osteobl	bone
50	chr2:38949800-38956600	Weak transcription	Adipose Nuclei	Adipose

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