Variant report

Variant	esv2762913
Chromosome Location	chr2:149249683-149345487
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:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:149261445..149263712-chr2:149268921..149270599,2	MCF-7	breast:
2	chr2:149277983..149279760-chr2:149282502..149284169,2	K562	blood:
3	chr2:149300619..149303078-chr2:149303918..149306388,2	K562	blood:
4	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
5	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:
6	chr2:149315092..149315904-chr2:149364871..149365412,2	MCF-7	breast:
7	chr2:148967081..148967666-chr2:149266757..149267493,2	MCF-7	breast:
8	chr2:148925257..148925927-chr2:149266799..149267551,3	MCF-7	breast:
9	chr2:149294992..149296635-chr2:149307311..149309386,2	K562	blood:
10	chr2:149341455..149346543-chr2:149350713..149356199,4	K562	blood:
11	chr2:149319544..149321447-chr2:149323434..149324991,2	MCF-7	breast:
12	chr2:148747289..148748018-chr2:149266484..149267635,9	MCF-7	breast:
13	chr2:149294626..149297219-chr2:149297327..149299085,2	K562	blood:
14	chr2:149257990..149260894-chr2:149265586..149267154,2	K562	blood:
15	chr2:149257941..149260096-chr2:149261087..149264018,2	K562	blood:
16	chr2:149337761..149341729-chr2:149349251..149353355,5	MCF-7	breast:
17	chr2:149277983..149279760-chr2:149282502..149284169,2	K562	blood:
18	chr2:149273481..149276815-chr2:149277336..149280531,3	MCF-7	breast:
19	chr2:149294626..149297219-chr2:149297327..149299085,2	K562	blood:
20	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
21	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:
22	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
23	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
24	chr2:149244708..149247294-chr2:149251980..149254307,2	K562	blood:
25	chr2:149294992..149296635-chr2:149307311..149309386,2	K562	blood:
26	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
27	chr2:149308484..149310057-chr2:149401068..149402594,2	K562	blood:
28	chr2:149310604..149312256-chr2:149400996..149403979,2	K562	blood:
29	chr2:149300619..149303078-chr2:149303918..149306388,2	K562	blood:
30	chr2:149319544..149321447-chr2:149323434..149324991,2	MCF-7	breast:
31	chr2:149261445..149263712-chr2:149268921..149270599,2	MCF-7	breast:
32	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
33	chr2:149282589..149285549-chr2:149375360..149378026,2	MCF-7	breast:
34	chr2:149273481..149276815-chr2:149277336..149280531,3	MCF-7	breast:
35	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
36	chr2:148695019..148695866-chr2:149266727..149267624,3	K562	blood:
37	chr2:148747741..148748520-chr2:149322760..149323458,2	K562	blood:
38	chr2:148747086..148748063-chr2:149266705..149267668,7	MCF-7	breast:
39	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:
40	chr2:149244268..149247294-chr2:149251555..149254307,3	K562	blood:
41	chr2:149286910..149287910-chrX:103028804..103029356,2	MCF-7	breast:
42	chr2:149257990..149260894-chr2:149265586..149267154,2	K562	blood:
43	chr2:148777185..148777981-chr2:149266660..149267608,2	MCF-7	breast:
44	chr2:149262235..149263751-chr2:149373469..149375065,2	K562	blood:
45	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:
46	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
47	chr2:148685824..148687356-chr2:149266124..149268743,2	K562	blood:
48	chr2:148704147..148707130-chr2:149248171..149249711,2	K562	blood:
49	chr2:149341455..149344319-chr2:149350713..149353592,2	K562	blood:
50	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPC2-1	chr2:149262047-149262433	expReg_chr2_10621_+

No data

Variant related genes	Relation type
ENSG00000135999	chromatin interactions
ENSG00000123560	chromatin interactions
ENSG00000232238	chromatin interactions
ENSG00000115947	chromatin interactions

Extended variants
information (count: 3081 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3081 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540982685	chr2:149249729-149249730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183861814	chr2:149249734-149249735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577568546	chr2:149249756-149249757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544980259	chr2:149249757-149249758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563411968	chr2:149249872-149249873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150145418	chr2:149249928-149249929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138607778	chr2:149249973-149249974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562124524	chr2:149250069-149250070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533609462	chr2:149250146-149250147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12620213	chr2:149250195-149250196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560214258	chr2:149250201-149250202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367572706	chr2:149250456-149250457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547798958	chr2:149250469-149250470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566318482	chr2:149250473-149250474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533184445	chr2:149250635-149250636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149291318	chr2:149250721-149250722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4265953	chr2:149250722-149250723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146286196	chr2:149250738-149250739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186638993	chr2:149250775-149250776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138118790	chr2:149250781-149250782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77485532	chr2:149250784-149250785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548831860	chr2:149250837-149250838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73003510	chr2:149250846-149250847	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374518452	chr2:149250857-149250858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145923099	chr2:149250859-149250860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545066245	chr2:149250912-149250913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556971737	chr2:149250942-149250943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148643645	chr2:149250969-149250970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79234009	chr2:149251014-149251015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16828668	chr2:149251064-149251065	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73003513	chr2:149251119-149251120	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541576454	chr2:149251148-149251149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559838731	chr2:149251159-149251160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533443053	chr2:149251254-149251255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551389577	chr2:149251269-149251270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17356995	chr2:149251359-149251360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193258006	chr2:149251365-149251366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538851577	chr2:149251382-149251383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73965440	chr2:149251385-149251386	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185745080	chr2:149251407-149251408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113194110	chr2:149251415-149251416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190601715	chr2:149251430-149251431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546767117	chr2:149251459-149251460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373316377	chr2:149251485-149251486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538917482	chr2:149251515-149251516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557257101	chr2:149251679-149251680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35660414	chr2:149251699-149251700	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10928398	chr2:149251702-149251703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181860760	chr2:149251712-149251713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554379740	chr2:149251771-149251772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	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	chr2:149226800-149250200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:149227200-149259200	Weak transcription	Right Ventricle	heart
3	chr2:149227400-149250800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:149227400-149251400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:149227600-149259200	Weak transcription	Gastric	stomach
6	chr2:149227800-149251000	Weak transcription	GM12878-XiMat	blood
7	chr2:149227800-149259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:149228000-149259200	Weak transcription	Pancreas	Pancrea
9	chr2:149228400-149251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:149241600-149250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:149242000-149257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:149242200-149251000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:149243800-149254000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:149244000-149253600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:149244200-149254200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:149244200-149261400	Weak transcription	Small Intestine	intestine
17	chr2:149244600-149251600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:149245000-149252600	Weak transcription	Esophagus	oesophagus
19	chr2:149245400-149266800	Weak transcription	Thymus	Thymus
20	chr2:149246000-149261200	Weak transcription	Fetal Heart	heart
21	chr2:149247000-149251200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:149247000-149266400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:149247200-149266200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:149247400-149259200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:149247600-149250600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:149247600-149250600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:149247600-149251400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:149247600-149258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
30	chr2:149247800-149250000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:149247800-149253600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:149247800-149266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:149247800-149266800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:149247800-149266800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:149248000-149252000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:149248000-149253000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:149248000-149266800	Weak transcription	Brain Angular Gyrus	brain
38	chr2:149248200-149250600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:149248200-149252400	Weak transcription	Brain Substantia Nigra	brain
40	chr2:149248200-149259000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:149248200-149266800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:149248400-149250000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:149248400-149253200	Weak transcription	Primary T cells from cord blood	blood
44	chr2:149248400-149266600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:149248400-149266600	Weak transcription	Fetal Brain Male	brain
46	chr2:149248400-149266800	Weak transcription	Fetal Brain Female	brain
47	chr2:149248600-149250400	Weak transcription	Brain Germinal Matrix	brain
48	chr2:149248600-149250400	Weak transcription	Fetal Thymus	thymus
49	chr2:149248600-149250600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:149248600-149251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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