Variant report

Variant	esv3362903
Chromosome Location	chr2:64478898-64485796
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64368580..64371469-chr2:64483320..64485909,2	K562	blood:
2	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
2	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
3	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
4	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
5	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095
6	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104

No data

Variant related genes	Relation type
ENSG00000225889	chromatin interactions
FUBP3	miRNA target sites

Extended variants
information (count: 421 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369589758	chr2:64478988-64478989	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189438586	chr2:64479035-64479036	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs113393910	chr2:64479039-64479040	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs1025209	chr2:64479060-64479061	Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180913411	chr2:64479072-64479073	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs1025210	chr2:64479079-64479080	Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371374155	chr2:64479112-64479113	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549414239	chr2:64479141-64479142	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567635043	chr2:64479173-64479174	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147218428	chr2:64479187-64479188	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543648876	chr2:64479201-64479202	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552984546	chr2:64479211-64479212	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115262664	chr2:64479277-64479278	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185122649	chr2:64479327-64479328	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562834939	chr2:64479360-64479361	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557054273	chr2:64479368-64479369	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575013445	chr2:64479404-64479405	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140652588	chr2:64479412-64479413	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554149409	chr2:64479434-64479435	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75954281	chr2:64479464-64479465	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191209841	chr2:64479514-64479515	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145579356	chr2:64479533-64479534	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533599661	chr2:64479540-64479541	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374961720	chr2:64479606-64479607	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs563836874	chr2:64479607-64479608	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552477013	chr2:64479641-64479642	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368284497	chr2:64479644-64479645	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs370253519	chr2:64479708-64479709	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs531046673	chr2:64479796-64479797	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs369377513	chr2:64479800-64479801	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs527687044	chr2:64479827-64479828	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs1963382	chr2:64479841-64479842	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111408073	chr2:64479844-64479845	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200732775	chr2:64479887-64479888	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181899546	chr2:64479904-64479905	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs186912746	chr2:64479906-64479907	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561669335	chr2:64479952-64479953	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111420098	chr2:64480016-64480017	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550384227	chr2:64480017-64480018	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569746034	chr2:64480021-64480022	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538707625	chr2:64480023-64480024	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568667378	chr2:64480086-64480087	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535954517	chr2:64480103-64480104	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561007708	chr2:64480180-64480181	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183310337	chr2:64480209-64480210	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188319271	chr2:64480233-64480234	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543412528	chr2:64480272-64480273	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533531390	chr2:64480323-64480324	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191009546	chr2:64480347-64480348	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113866389	chr2:64480348-64480349	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64472200-64486400	Weak transcription	Right Atrium	heart
2	chr2:64475400-64485400	Weak transcription	Ovary	ovary
3	chr2:64476200-64479000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:64477000-64489000	Weak transcription	Lung	lung
5	chr2:64478000-64479000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:64478200-64482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:64478400-64485200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:64478400-64486600	Weak transcription	Psoas Muscle	Psoas
9	chr2:64478600-64479000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:64478600-64482800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:64478600-64484000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:64478600-64485200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:64478800-64479000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:64478800-64479000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:64478800-64479000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:64478800-64479000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:64478800-64479200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:64478800-64479400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:64478800-64479800	Enhancers	K562	blood
20	chr2:64478800-64482800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:64478800-64483000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:64478800-64485200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:64479000-64480000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:64479000-64482800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:64479000-64482800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:64479000-64483000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:64479000-64483400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr2:64479000-64484000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:64479400-64479600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr2:64479600-64480800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:64479800-64480400	Weak transcription	K562	blood
32	chr2:64480000-64482200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:64480000-64483000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:64480400-64480600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:64480400-64480800	Active TSS	K562	blood
36	chr2:64480800-64482800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:64480800-64482800	Weak transcription	K562	blood
38	chr2:64482200-64483000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:64482800-64483000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:64482800-64483600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr2:64482800-64483800	Enhancers	K562	blood
42	chr2:64482800-64484000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
43	chr2:64482800-64484000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr2:64482800-64484000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr2:64482800-64484000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
46	chr2:64483000-64483200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:64483000-64483600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:64483000-64483800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:64483000-64484000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
50	chr2:64483000-64484000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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