Variant report

Variant	esv1010948
Chromosome Location	chr2:64477853-64485307
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:9)
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:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104
2	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
3	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
4	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
5	lnc-LGALSL-2	chr2:64478253-64478471	ENSG00000225889
6	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
7	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
8	lnc-PELI1-8	chr2:64478253-64478681	NONHSAT071095
9	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095

No data

Variant related genes	Relation type
ENSG00000225889	chromatin interactions
PRDM1	miRNA target sites
FUBP3	miRNA target sites
CEBPZ	miRNA target sites

Extended variants
information (count: 443 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:443 , 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	rs145139358	chr2:64477905-64477906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112096802	chr2:64477954-64477955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139016715	chr2:64477962-64477963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371588922	chr2:64477964-64477965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372938533	chr2:64478017-64478018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149402408	chr2:64478029-64478030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577682257	chr2:64478082-64478083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112948031	chr2:64478084-64478085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563306364	chr2:64478088-64478089	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148108225	chr2:64478146-64478147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567712772	chr2:64478150-64478151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192488239	chr2:64478204-64478205	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547140952	chr2:64478228-64478229	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536853714	chr2:64478256-64478257	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550108640	chr2:64478330-64478331	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562022979	chr2:64478340-64478341	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs529481999	chr2:64478367-64478368	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs75041170	chr2:64478409-64478410	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566114546	chr2:64478413-64478414	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs141879221	chr2:64478429-64478430	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs184488232	chr2:64478441-64478442	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570070738	chr2:64478449-64478450	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375896417	chr2:64478450-64478451	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs537437309	chr2:64478488-64478489	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs190187858	chr2:64478494-64478495	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs147277330	chr2:64478495-64478496	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs538622568	chr2:64478559-64478560	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181388563	chr2:64478560-64478561	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs558613772	chr2:64478591-64478592	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184971834	chr2:64478605-64478606	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs58835591	chr2:64478612-64478613	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs140672629	chr2:64478712-64478713	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545129892	chr2:64478725-64478726	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556777817	chr2:64478735-64478736	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377288264	chr2:64478759-64478760	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116570509	chr2:64478781-64478782	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542202299	chr2:64478789-64478790	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs572092435	chr2:64478868-64478869	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs529566999	chr2:64478894-64478895	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs369589758	chr2:64478988-64478989	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs189438586	chr2:64479035-64479036	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113393910	chr2:64479039-64479040	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs1025209	chr2:64479060-64479061	Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180913411	chr2:64479072-64479073	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs1025210	chr2:64479079-64479080	Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371374155	chr2:64479112-64479113	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs549414239	chr2:64479141-64479142	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567635043	chr2:64479173-64479174	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147218428	chr2:64479187-64479188	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543648876	chr2:64479201-64479202	Active TSS Weak transcription Enhancers	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:129 , 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	chr2:64473400-64478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64475200-64478000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:64475200-64478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:64475400-64485400	Weak transcription	Ovary	ovary
6	chr2:64476200-64478400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:64476200-64479000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:64476800-64478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:64476800-64478200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:64476800-64478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:64476800-64478400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:64476800-64478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:64477000-64489000	Weak transcription	Lung	lung
14	chr2:64477400-64478400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:64477400-64478400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:64477600-64478200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:64477600-64478200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:64477600-64478400	Enhancers	Psoas Muscle	Psoas
19	chr2:64477600-64478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:64477600-64478800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:64477800-64478000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:64477800-64478200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:64478000-64478200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:64478000-64478400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:64478000-64478800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:64478000-64479000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:64478200-64478600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:64478200-64478600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:64478200-64478600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:64478200-64478800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:64478200-64482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:64478400-64478600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr2:64478400-64478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:64478400-64478600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:64478400-64478800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:64478400-64478800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:64478400-64485200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:64478400-64486600	Weak transcription	Psoas Muscle	Psoas
39	chr2:64478600-64478800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:64478600-64478800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr2:64478600-64478800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:64478600-64479000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:64478600-64482800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:64478600-64484000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:64478600-64485200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:64478800-64479000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:64478800-64479000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:64478800-64479000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr2:64478800-64479000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:64478800-64479200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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