Variant report

Variant	esv2763510
Chromosome Location	chr2:55322895-55330350
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	chr2:55327279..55331330-chr2:55337574..55341174,5	K562	blood:
2	chr2:55274277..55278619-chr2:55322679..55324935,4	K562	blood:
3	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
4	chr2:55287997..55290069-chr2:55324008..55326423,2	K562	blood:
5	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
6	chr2:55326388..55330538-chr2:55335061..55337994,3	K562	blood:
7	chr2:55317970..55321435-chr2:55328777..55332297,3	K562	blood:
8	chr2:55323589..55325752-chr2:55333096..55335881,2	MCF-7	breast:
9	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
10	chr2:55278300..55281080-chr2:55325086..55327233,3	K562	blood:
11	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
12	chr2:55276927..55278545-chr2:55322721..55325631,2	K562	blood:
13	chr2:55276735..55279463-chr2:55327258..55330571,3	K562	blood:
14	chr2:55326463..55328844-chr2:55338475..55342420,4	K562	blood:
15	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
16	chr2:55312676..55314647-chr2:55325733..55328474,2	K562	blood:
17	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
18	chr2:55274277..55275806-chr2:55323435..55326407,2	K562	blood:
19	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
20	chr2:55322057..55324846-chr2:55364507..55366032,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions
ENSG00000266376	chromatin interactions

Extended variants
information (count: 305 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548329218	chr2:55322919-55322920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371480583	chr2:55322928-55322929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573704485	chr2:55322948-55322949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561742338	chr2:55322967-55322968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530785498	chr2:55323026-55323027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181711623	chr2:55323058-55323059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140752921	chr2:55323064-55323065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575157734	chr2:55323132-55323133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186722409	chr2:55323158-55323159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566152715	chr2:55323174-55323175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534824816	chr2:55323175-55323176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191116822	chr2:55323176-55323177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7607923	chr2:55323183-55323184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs537737481	chr2:55323186-55323187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150113890	chr2:55323187-55323188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138548716	chr2:55323201-55323202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545363760	chr2:55323228-55323229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182289396	chr2:55323233-55323234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572562157	chr2:55323237-55323238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541562908	chr2:55323241-55323242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140227106	chr2:55323290-55323291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540309701	chr2:55323291-55323292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35288162	chr2:55323322-55323323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550836237	chr2:55323323-55323324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185141909	chr2:55323330-55323331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559962570	chr2:55323331-55323332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576292229	chr2:55323398-55323399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189557235	chr2:55323402-55323403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6718269	chr2:55323424-55323425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138101559	chr2:55323433-55323434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535072254	chr2:55323435-55323436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565388364	chr2:55323436-55323437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548443966	chr2:55323437-55323438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532037648	chr2:55323442-55323443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113297587	chr2:55323462-55323463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183249531	chr2:55323489-55323490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537271717	chr2:55323497-55323498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552140309	chr2:55323504-55323505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557152584	chr2:55323540-55323541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142570420	chr2:55323545-55323546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539752930	chr2:55323548-55323549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188766423	chr2:55323657-55323658	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143988083	chr2:55323659-55323660	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572798509	chr2:55323778-55323779	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148245487	chr2:55323792-55323793	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs533966620	chr2:55323800-55323801	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2968809	chr2:55323803-55323804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs35716667	chr2:55323821-55323822	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567621907	chr2:55323828-55323829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536358870	chr2:55323849-55323850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55315400-55323600	Weak transcription	HSMMtube	muscle
2	chr2:55316000-55323800	Weak transcription	NHDF-Ad	bronchial
3	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:55317200-55323800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:55318400-55323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:55318400-55323600	Weak transcription	Hela-S3	cervix
7	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:55319800-55324600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:55320200-55323800	Weak transcription	Stomach Mucosa	stomach
11	chr2:55320400-55323800	Weak transcription	Psoas Muscle	Psoas
12	chr2:55321000-55323600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:55321000-55323600	Weak transcription	Fetal Heart	heart
14	chr2:55321000-55323800	Weak transcription	NH-A	brain
15	chr2:55321000-55324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:55321000-55324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:55321000-55326600	Weak transcription	HMEC	breast
18	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:55321600-55323600	Weak transcription	K562	blood
20	chr2:55321600-55323600	Weak transcription	Osteobl	bone
21	chr2:55321600-55323800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:55321600-55323800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:55321600-55323800	Weak transcription	A549	lung
24	chr2:55321600-55325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
27	chr2:55321800-55323600	Weak transcription	NHLF	lung
28	chr2:55321800-55324000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:55321800-55324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:55321800-55324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:55322000-55323800	Weak transcription	Brain Angular Gyrus	brain
33	chr2:55322000-55323800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:55322000-55323800	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:55322000-55323800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:55322000-55323800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:55322000-55324000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:55322000-55324200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:55322000-55324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:55322000-55324800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:55322000-55326600	Weak transcription	NHEK	skin
43	chr2:55322200-55323800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:55322200-55323800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:55322200-55325200	Enhancers	Ovary	ovary
46	chr2:55322400-55323000	Weak transcription	Lung	lung
47	chr2:55322400-55323800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
49	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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