Variant report

Variant	esv2759041
Chromosome Location	chr2:36622906-36657305
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	chr2:36653170..36656260-chr2:36656340..36659341,3	K562	blood:
2	chr2:36646028..36647836-chr2:36650769..36652474,2	MCF-7	breast:
3	chr2:36646546..36648812-chr2:36651208..36653826,3	K562	blood:
4	chr2:36583520..36585137-chr2:36624819..36626456,2	MCF-7	breast:
5	chr2:36646546..36648812-chr2:36651208..36653826,3	K562	blood:
6	chr2:36655361..36657186-chr2:36662322..36664635,2	K562	blood:
7	chr2:36587314..36589813-chr2:36643724..36646171,2	MCF-7	breast:
8	chr2:36613783..36616310-chr2:36620739..36623500,2	MCF-7	breast:
9	chr2:36593697..36595696-chr2:36635356..36637149,2	MCF-7	breast:
10	chr2:36621514..36623196-chr2:36625888..36628234,2	K562	blood:
11	chr2:36595497..36597494-chr2:36620242..36622925,2	MCF-7	breast:
12	chr2:36622875..36625167-chr2:36629133..36630867,2	K562	blood:
13	chr2:36622875..36625167-chr2:36629133..36630867,2	K562	blood:
14	chr2:36624404..36627384-chr2:36629683..36631735,2	MCF-7	breast:
15	chr2:36608117..36609788-chr2:36637029..36638848,2	MCF-7	breast:
16	chr2:36646028..36647836-chr2:36650769..36652474,2	MCF-7	breast:
17	chr2:36653170..36656260-chr2:36656340..36659341,3	K562	blood:
18	chr2:36624404..36627384-chr2:36629683..36631735,2	MCF-7	breast:
19	chr2:36621514..36623196-chr2:36625888..36628234,2	K562	blood:
20	chr2:36605127..36607933-chr2:36655306..36657795,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150938	chromatin interactions

Extended variants
information (count: 1479 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1479 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17018693	chr2:36622906-36622907	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78156125	chr2:36622941-36622942	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs192389339	chr2:36622944-36622945	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs563985767	chr2:36622961-36622962	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs540329250	chr2:36622972-36622973	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs565083065	chr2:36622978-36622979	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs185083337	chr2:36622983-36622984	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs550595596	chr2:36623013-36623014	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1465335	chr2:36623048-36623049	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552917947	chr2:36623055-36623056	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530299313	chr2:36623059-36623060	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548877067	chr2:36623078-36623079	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189069750	chr2:36623079-36623080	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534404508	chr2:36623116-36623117	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75028071	chr2:36623117-36623118	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192964614	chr2:36623142-36623143	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375606960	chr2:36623197-36623198	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528547867	chr2:36623238-36623239	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557026450	chr2:36623241-36623242	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575333845	chr2:36623277-36623278	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537824462	chr2:36623285-36623286	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536122849	chr2:36623298-36623299	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550164777	chr2:36623330-36623331	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554859141	chr2:36623333-36623334	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184823946	chr2:36623347-36623348	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572948342	chr2:36623449-36623450	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540461046	chr2:36623479-36623480	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558610419	chr2:36623609-36623610	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189436430	chr2:36623696-36623697	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377222525	chr2:36623709-36623710	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs143572502	chr2:36623715-36623716	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562505349	chr2:36623729-36623730	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376430746	chr2:36623809-36623810	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530113910	chr2:36623842-36623843	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542109966	chr2:36623857-36623858	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113197249	chr2:36623883-36623884	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560889856	chr2:36623954-36623955	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370896298	chr2:36623962-36623963	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372654070	chr2:36623974-36623975	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527872875	chr2:36624007-36624008	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181484126	chr2:36624021-36624022	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184898094	chr2:36624062-36624063	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532217689	chr2:36624068-36624069	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550711289	chr2:36624105-36624106	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200883662	chr2:36624109-36624110	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568719547	chr2:36624111-36624112	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140957894	chr2:36624124-36624125	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs3821164	chr2:36624137-36624138	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113986517	chr2:36624141-36624142	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546665810	chr2:36624147-36624148	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	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
Breast cancer	21364760	CNVD
Wilms tumour	21544195	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
5	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:36613000-36624000	Weak transcription	Small Intestine	intestine
7	chr2:36616800-36624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:36617200-36623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:36617200-36624000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:36617200-36624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:36617200-36625000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
17	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
18	chr2:36617600-36624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:36618200-36624000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
23	chr2:36619800-36625400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:36620000-36623000	Enhancers	Hela-S3	cervix
25	chr2:36620200-36626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:36620200-36635000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:36620400-36623400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:36620400-36624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:36620800-36624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:36620800-36629200	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr2:36621000-36623000	Enhancers	NHLF	lung
32	chr2:36621000-36624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:36621000-36624000	Weak transcription	Left Ventricle	heart
34	chr2:36621000-36630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:36621000-36631400	Weak transcription	Fetal Brain Female	brain
36	chr2:36621000-36635000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:36621000-36635200	Weak transcription	Lung	lung
38	chr2:36621200-36623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:36621200-36623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:36621200-36623400	Weak transcription	Placenta	Placenta
41	chr2:36621200-36623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:36621200-36623600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:36621200-36623600	Weak transcription	HepG2	liver
44	chr2:36621200-36623600	Weak transcription	HMEC	breast
45	chr2:36621200-36623800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:36621200-36624000	Weak transcription	Psoas Muscle	Psoas
47	chr2:36621200-36624200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:36621200-36625000	Weak transcription	Right Ventricle	heart
49	chr2:36621200-36628000	Weak transcription	Ovary	ovary
50	chr2:36621200-36629000	Weak transcription	Fetal Muscle Leg	muscle

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