Variant report

Variant	nsv977280
Chromosome Location	chr13:111596117-111604319
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:16)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111600843..111602804-chr13:111656285..111658237,2	K562	blood:
2	chr13:111596690..111597257-chr13:111659947..111660486,2	MCF-7	breast:
3	chr13:111565745..111568365-chr13:111597876..111600865,2	K562	blood:
4	chr13:111593882..111596003-chr13:111601487..111604119,2	MCF-7	breast:
5	chr13:111596388..111597279-chr13:111699232..111699797,2	K562	blood:
6	chr13:111589463..111592120-chr13:111592601..111596549,3	K562	blood:
7	chr13:111589374..111593348-chr13:111595009..111596753,3	K562	blood:
8	chr13:111596307..111597526-chr13:111702246..111703284,7	K562	blood:
9	chr13:111595026..111596884-chr13:111600669..111603295,2	K562	blood:
10	chr13:111601035..111603243-chr13:111609725..111611968,2	K562	blood:
11	chr13:111596221..111596849-chr13:111868318..111869035,2	MCF-7	breast:
12	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:
13	chr13:111596301..111597417-chr13:111701936..111703237,11	MCF-7	breast:
14	chr13:111595026..111596884-chr13:111600669..111603295,2	K562	blood:
15	chr13:111596412..111597239-chr13:111702359..111703278,4	MCF-7	breast:
16	chr13:111595257..111596791-chr13:111692860..111695650,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGEF7-5	chr13:111603001-111603251	NONHSAT035193
2	lnc-ARHGEF7-6	chr13:111596587-111597078	l_919_chr13:111595710-111597078_testes
3	lnc-ARHGEF7-5	chr13:111603215-111603491	NONHSAT035192
4	lnc-ARHGEF7-5	chr13:111602300-111602398	NONHSAT035192
5	lnc-ARHGEF7-5	chr13:111602258-111602398	l_920_chr13:111602257-111603531_testes
6	lnc-ARHGEF7-5	chr13:111603260-111603531	l_920_chr13:111602257-111603531_testes
7	lnc-ARHGEF7-5	chr13:111603001-111603173	l_920_chr13:111602257-111603531_testes
8	lnc-ARHGEF7-5	chr13:111602303-111602398	NONHSAT035193

No data

Variant related genes	Relation type
ENSG00000088448	chromatin interactions

Extended variants
information (count: 435 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:435 , 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	rs78570912	chr13:111596119-111596120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4238281	chr13:111596127-111596128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557885418	chr13:111596131-111596132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563762742	chr13:111596193-111596194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577990914	chr13:111596213-111596214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139514029	chr13:111596235-111596236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9522004	chr13:111596279-111596280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568139131	chr13:111596282-111596283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182942937	chr13:111596287-111596288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187534354	chr13:111596290-111596291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149730216	chr13:111596315-111596316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539766146	chr13:111596350-111596351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558035583	chr13:111596391-111596392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192392454	chr13:111596459-111596460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184869305	chr13:111596489-111596490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2005632	chr13:111596511-111596512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs2001187	chr13:111596527-111596528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534942920	chr13:111596568-111596569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553168424	chr13:111596582-111596583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573593460	chr13:111596587-111596588	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113641136	chr13:111596594-111596595	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2005633	chr13:111596595-111596596	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575997005	chr13:111596607-111596608	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs543402630	chr13:111596611-111596612	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147599202	chr13:111596618-111596619	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200712096	chr13:111596622-111596623	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146728976	chr13:111596643-111596644	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528999358	chr13:111596648-111596649	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs376144912	chr13:111596688-111596689	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs188955035	chr13:111596704-111596705	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs192632171	chr13:111596715-111596716	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs533118666	chr13:111596721-111596722	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551738771	chr13:111596840-111596841	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs2001678	chr13:111596868-111596869	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530563003	chr13:111596880-111596881	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs537076548	chr13:111596909-111596910	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs76684339	chr13:111596911-111596912	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs139275102	chr13:111596930-111596931	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs184479197	chr13:111596936-111596937	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113859743	chr13:111596938-111596939	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs577827961	chr13:111596967-111596968	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs538840004	chr13:111597032-111597033	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs189706686	chr13:111597038-111597039	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs570410485	chr13:111597096-111597097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377674612	chr13:111597097-111597098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114736919	chr13:111597113-111597114	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2001677	chr13:111597116-111597117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114428898	chr13:111597186-111597187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117985021	chr13:111597193-111597194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541135351	chr13:111597228-111597229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111591000-111596600	Weak transcription	Placenta	Placenta
2	chr13:111594600-111596400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:111594600-111597000	Enhancers	NHEK	skin
4	chr13:111595200-111596200	Weak transcription	HSMMtube	muscle
5	chr13:111595200-111596600	Weak transcription	GM12878-XiMat	blood
6	chr13:111595600-111596800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:111595800-111596200	Enhancers	Left Ventricle	heart
8	chr13:111595800-111596600	Enhancers	HUVEC	blood vessel
9	chr13:111595800-111596600	Enhancers	NH-A	brain
10	chr13:111595800-111596800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:111595800-111597000	Enhancers	HMEC	breast
12	chr13:111595800-111597200	Enhancers	NHDF-Ad	bronchial
13	chr13:111595800-111597600	Enhancers	Hela-S3	cervix
14	chr13:111595800-111598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:111596000-111596400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:111596000-111597200	Enhancers	HSMM	muscle
17	chr13:111596000-111597400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:111596000-111597800	Enhancers	K562	blood
19	chr13:111596000-111598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:111596000-111598400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr13:111596200-111596600	Weak transcription	Left Ventricle	heart
22	chr13:111596200-111596600	Enhancers	HSMMtube	muscle
23	chr13:111596200-111596800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:111596200-111597000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:111596200-111597200	Enhancers	NHLF	lung
26	chr13:111596200-111597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:111596200-111597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:111596200-111597400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:111596200-111597600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:111596200-111597800	Enhancers	Fetal Muscle Leg	muscle
31	chr13:111596400-111596800	Enhancers	A549	lung
32	chr13:111596400-111597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:111596400-111597000	Enhancers	Osteobl	bone
34	chr13:111596400-111597400	Enhancers	Adipose Nuclei	Adipose
35	chr13:111596600-111597000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111596600-111597000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:111596600-111597000	Enhancers	Placenta	Placenta
38	chr13:111596600-111597200	Enhancers	GM12878-XiMat	blood
39	chr13:111596600-111597200	Flanking Active TSS	HUVEC	blood vessel
40	chr13:111596600-111597400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:111596600-111597400	Weak transcription	HSMMtube	muscle
42	chr13:111596600-111597600	Enhancers	Lung	lung
43	chr13:111596600-111598000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr13:111596600-111598800	Enhancers	Left Ventricle	heart
45	chr13:111596800-111597400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:111596800-111597600	Enhancers	Right Atrium	heart
47	chr13:111596800-111598800	Enhancers	Stomach Mucosa	stomach
48	chr13:111596800-111598800	Enhancers	Spleen	Spleen
49	chr13:111597000-111597200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:111597000-111598000	Weak transcription	Placenta	Placenta

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