Variant report

Variant	nsv431058
Chromosome Location	chr2:52944395-53057924
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:7)
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	chr2:53037360..53037874-chr2:53428995..53429598,2	MCF-7	breast:
2	chr2:53037286..53038157-chr2:53203093..53203814,3	MCF-7	breast:
3	chr2:53048584..53050700-chr2:53053856..53055982,2	K562	blood:
4	chr2:53048846..53049807-chr2:53183875..53184416,2	MCF-7	breast:
5	chr2:52948968..52951484-chr2:52953850..52956784,2	MCF-7	breast:
6	chr2:53048584..53050700-chr2:53053856..53055982,2	K562	blood:
7	chr2:52948968..52951484-chr2:52953850..52956784,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-1	chr2:52959880-52959915	ENSG00000228033
2	lnc-ASB3-1	chr2:52953810-52953956	ENSG00000228033
3	lnc-ASB3-1	chr2:52949815-52950001	ENSG00000228033
4	lnc-CHAC2-7	chr2:52944877-52944958	NONHSAT070679
5	lnc-ASB3-1	chr2:52949815-52950001	ENSG00000228033
6	lnc-CHAC2-7	chr2:52947023-52947273	NONHSAT070679
7	lnc-ASB3-1	chr2:52953810-52953956	ENSG00000228033

No data

Extended variants
information (count: 2066 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2066 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs350778	chr2:52944395-52944396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548937394	chr2:52944396-52944397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568750344	chr2:52944415-52944416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536297098	chr2:52944419-52944420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562252107	chr2:52944429-52944430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182245516	chr2:52944434-52944435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575905605	chr2:52944440-52944441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538728618	chr2:52944479-52944480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558340841	chr2:52944513-52944514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558399432	chr2:52944517-52944518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566946211	chr2:52944526-52944527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115861133	chr2:52944557-52944558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35998021	chr2:52944578-52944579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369012902	chr2:52944587-52944588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185822672	chr2:52944589-52944590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386646128	chr2:52944631-52944632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2626386	chr2:52944632-52944633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190680203	chr2:52944636-52944637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72804374	chr2:52944638-52944639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552656922	chr2:52944667-52944668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76061178	chr2:52944679-52944680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10194669	chr2:52944681-52944682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147791453	chr2:52944704-52944705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181036833	chr2:52944718-52944719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs350779	chr2:52944722-52944723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs374248992	chr2:52944737-52944738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551246907	chr2:52944803-52944804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569655370	chr2:52944860-52944861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11897448	chr2:52944875-52944876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185507533	chr2:52944879-52944880	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs190645721	chr2:52944888-52944889	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs112906949	chr2:52944922-52944923	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs72060842	chr2:52944925-52944926	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs182746554	chr2:52944937-52944938	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374301103	chr2:52944946-52944947	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs350780	chr2:52944955-52944956	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141248552	chr2:52944975-52944976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142491415	chr2:52944987-52944988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6758387	chr2:52945018-52945019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187716066	chr2:52945056-52945057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561701652	chr2:52945070-52945071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192256489	chr2:52945095-52945096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10209815	chr2:52945096-52945097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200357452	chr2:52945099-52945100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528584122	chr2:52945103-52945104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140857793	chr2:52945104-52945105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368133998	chr2:52945106-52945107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562268510	chr2:52945131-52945132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371856580	chr2:52945153-52945154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531095779	chr2:52945209-52945210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52944200-52944400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:52944400-52945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:52944800-52945200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:52945000-52945200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:52945200-52946000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:52951000-52951400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:52951400-52952200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:52951800-52952200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:52951800-52952200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:52952200-52952400	Enhancers	Brain Hippocampus Middle	brain
11	chr2:52959800-52960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:52959800-52961200	Enhancers	Stomach Mucosa	stomach
13	chr2:52960000-52960400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:52960000-52960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:52960000-52960400	Enhancers	Spleen	Spleen
16	chr2:52960000-52960600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:52960000-52960600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:52960200-52960600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:52960200-52960600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:52960600-52961600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:52961200-52961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:52961600-52961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:52968200-52968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:52972800-52973400	Active TSS	Fetal Heart	heart
25	chr2:53003600-53004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:53003800-53004200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine
28	chr2:53021800-53022200	Enhancers	Adipose Nuclei	Adipose
29	chr2:53024200-53025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:53025200-53029200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:53027800-53049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:53029200-53029400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr2:53029200-53029800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:53029800-53033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:53031200-53031800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:53031400-53031800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:53033200-53034400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:53037600-53037800	Weak transcription	Left Ventricle	heart
39	chr2:53037800-53038000	Enhancers	Left Ventricle	heart
40	chr2:53037800-53038200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:53037800-53038200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:53037800-53038200	Enhancers	Pancreas	Pancrea
43	chr2:53038200-53044600	Weak transcription	Pancreas	Pancrea
44	chr2:53046400-53046800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:53046800-53050600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:53050600-53051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:53051400-53058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:53057000-53057400	Enhancers	Pancreas	Pancrea
49	chr2:53057400-53059600	Weak transcription	Pancreas	Pancrea

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