Variant report

Variant	esv2757800
Chromosome Location	chr2:56659685-56851198
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:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
2	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
3	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
4	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
5	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
6	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:
7	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56815913-56815973	XLOC_001482
2	lnc-CCDC85A-1	chr2:56815912-56815973	NONHSAT070827
3	lnc-CCDC85A-1	chr2:56750279-56750484	NONHSAT070827
4	lnc-CCDC85A-1	chr2:56816620-56816630	XLOC_001482
5	lnc-CCDC85A-1	chr2:56816619-56816630	NONHSAT070827
6	lnc-CCDC85A-1	chr2:56750280-56750484	XLOC_001482

No data

Variant related genes	Relation type
NR2E1	miRNA target sites
SEC23IP	miRNA target sites

Extended variants
information (count: 4131 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4131 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537139174	chr2:56668216-56668217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145909676	chr2:56668300-56668301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534242510	chr2:56668349-56668350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181019173	chr2:56668358-56668359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574111105	chr2:56668371-56668372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186433597	chr2:56668386-56668387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562363613	chr2:56668396-56668397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116011659	chr2:56668411-56668412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544893933	chr2:56668449-56668450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11898202	chr2:56668452-56668453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11688894	chr2:56668473-56668474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187287051	chr2:56668488-56668489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375012801	chr2:56668500-56668501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115736256	chr2:56668501-56668502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560788463	chr2:56668519-56668520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111924669	chr2:56668521-56668522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529821132	chr2:56668551-56668552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549554092	chr2:56668592-56668593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539385907	chr2:56670835-56670836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377492060	chr2:56670855-56670856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552717068	chr2:56670857-56670858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564739029	chr2:56670859-56670860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566516937	chr2:56670874-56670875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535187489	chr2:56670890-56670891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563404768	chr2:56670896-56670897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78198458	chr2:56670930-56670931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574692830	chr2:56670949-56670950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543633997	chr2:56670957-56670958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557213779	chr2:56671032-56671033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73942438	chr2:56671063-56671064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546149090	chr2:56671107-56671108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532231160	chr2:56671108-56671109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543375088	chr2:56671134-56671135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528544962	chr2:56671202-56671203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55773010	chr2:56671223-56671224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562210014	chr2:56671249-56671250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144453826	chr2:56671271-56671272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186797089	chr2:56671307-56671308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190589415	chr2:56671313-56671314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533078665	chr2:56671321-56671322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546532901	chr2:56671412-56671413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145557733	chr2:56671425-56671426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148962795	chr2:56671430-56671431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183188250	chr2:56671451-56671452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13427726	chr2:56671519-56671520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537216777	chr2:56671572-56671573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368373196	chr2:56671605-56671606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532064485	chr2:56671633-56671634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186357759	chr2:56671676-56671677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577421714	chr2:56671706-56671707	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56668200-56668600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:56670800-56673200	Enhancers	Fetal Intestine Large	intestine
3	chr2:56671400-56672000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:56671400-56672000	Enhancers	Fetal Heart	heart
5	chr2:56671400-56672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:56671600-56671800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:56671600-56672000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:56671600-56672000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:56671600-56672000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:56671600-56672000	Enhancers	Left Ventricle	heart
11	chr2:56671600-56672000	Enhancers	Right Atrium	heart
12	chr2:56671600-56672000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:56671600-56672000	Enhancers	HSMM	muscle
14	chr2:56671600-56672200	Enhancers	Gastric	stomach
15	chr2:56671600-56672200	Enhancers	Psoas Muscle	Psoas
16	chr2:56671600-56672200	Enhancers	Stomach Mucosa	stomach
17	chr2:56671600-56673000	Enhancers	Fetal Intestine Small	intestine
18	chr2:56671800-56672200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr2:56672000-56675000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:56672000-56675200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:56672000-56675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:56672000-56675800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:56672200-56675200	Weak transcription	Psoas Muscle	Psoas
24	chr2:56672200-56675400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:56672200-56675600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:56672200-56675600	Weak transcription	Stomach Mucosa	stomach
27	chr2:56672200-56675800	Weak transcription	Gastric	stomach
28	chr2:56673000-56674400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:56673200-56674400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:56674400-56676400	Enhancers	Fetal Intestine Small	intestine
31	chr2:56674400-56678200	Enhancers	Fetal Intestine Large	intestine
32	chr2:56674600-56675400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:56674600-56676600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:56675000-56676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:56675000-56676400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:56675000-56677800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:56675000-56677800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:56675200-56675400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:56675200-56675600	Enhancers	A549	lung
40	chr2:56675200-56675800	Enhancers	Psoas Muscle	Psoas
41	chr2:56675200-56676000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:56675200-56676000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:56675200-56677000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:56675200-56678000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:56675400-56675600	Enhancers	Fetal Kidney	kidney
46	chr2:56675400-56675800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:56675400-56675800	Enhancers	HepG2	liver
48	chr2:56675400-56676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:56675400-56676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:56675400-56676600	Enhancers	NHEK	skin

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