Variant report

Variant	nsv880492
Chromosome Location	chr4:171386268-171433137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:171418359-171418829	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:171432318-171432584	HepG2	liver:	n/a	chr4:171432493-171432506
3	CEBPB	chr4:171410182-171410416	A549	lung:	n/a	n/a
4	CEBPB	chr4:171432364-171432592	A549	lung:	n/a	chr4:171432493-171432506
5	CEBPB	chr4:171401192-171401418	H1-hESC	embryonic stem cell:	n/a	chr4:171401328-171401339
6	CEBPB	chr4:171401216-171401464	IMR90	lung:	n/a	chr4:171401328-171401339
7	CEBPB	chr4:171401259-171401465	HepG2	liver:	n/a	chr4:171401328-171401339
8	CHD1	chr4:171418428-171418618	GM12878	blood:	n/a	n/a
9	CHD2	chr4:171418298-171418603	GM12878	blood:	n/a	n/a
10	CTCF	chr4:171418411-171418577	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:171418468-171418568	GM13977	blood:	n/a	n/a
12	CTCF	chr4:171418443-171418587	GM19240	blood:	n/a	n/a
13	CTCF	chr4:171409760-171409910	HRE	kidney:	n/a	n/a
14	CTCF	chr4:171418445-171418559	GM19238	blood:	n/a	n/a
15	CTCF	chr4:171418440-171418590	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr4:171418449-171418527	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr4:171418411-171418598	GM19239	blood:	n/a	n/a
18	CTCF	chr4:171418407-171418549	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:171418440-171418590	GM12878	blood:	n/a	n/a
20	CTCF	chr4:171418411-171418575	HepG2	liver:	n/a	n/a
21	CTCF	chr4:171418355-171418670	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:171418274-171418725	GM12878	blood:	n/a	n/a
23	CTCF	chr4:171420800-171420950	HPF	lung:	n/a	n/a
24	CTCF	chr4:171418377-171418574	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr4:171418424-171418605	GM12878	blood:	n/a	n/a
26	CTCF	chr4:171418400-171418579	MCF-7	breast:	n/a	n/a
27	CTCF	chr4:171418380-171418530	GM06990	blood:	n/a	n/a
28	CTCF	chr4:171418437-171418614	GM10248	blood:	n/a	n/a
29	CTCF	chr4:171418382-171418578	GM12891	blood:	n/a	n/a
30	CTCF	chr4:171418393-171418622	Gliobla	brain:	n/a	n/a
31	CTCF	chr4:171397717-171397744	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr4:171418432-171418592	A549	lung:	n/a	n/a
33	CTCF	chr4:171418428-171418572	Fibrobl	skin:	n/a	n/a
34	CTCF	chr4:171418440-171418557	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr4:171431490-171431552	GM20000	blood:	n/a	n/a
36	CTCF	chr4:171418440-171418590	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:171418440-171418590	HMEC	breast:	n/a	n/a
38	CTCF	chr4:171418420-171418570	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:171418429-171418607	LNCaP	prostate:	n/a	n/a
40	CTCF	chr4:171418417-171418604	Medullo	brain:	n/a	n/a
41	CTCF	chr4:171418460-171418610	RPTEC	kidney:	n/a	n/a
42	CTCF	chr4:171418394-171418611	GM12892	blood:	n/a	n/a
43	CTCF	chr4:171418454-171418595	GM10266	blood:	n/a	n/a
44	CTCF	chr4:171418413-171418562	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:171418488-171418577	GM13976	blood:	n/a	n/a
46	CTCF	chr4:171418340-171418490	RPTEC	kidney:	n/a	n/a
47	CTCF	chr4:171418380-171418530	GM12865	blood:	n/a	n/a
48	CTCF	chr4:171418451-171418522	ProgFib	skin:	n/a	n/a
49	CTCF	chr4:171418460-171418610	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr4:171418469-171418580	LNCaP	prostate:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:26692597..26693117-chr4:171403756..171404276,2	MCF-7	breast:
2	chr4:171180855..171182050-chr4:171418061..171418844,5	MCF-7	breast:
3	chr4:146024840..146025360-chr4:171403756..171404276,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-10	chr4:171432352-171432991	l_2775_chr4:171432351-171437825_testes
2	lnc-CLCN3-10	chr4:171431385-171431550	l_2774_chr4:171384330-171431550_prostate

No data

Variant related genes	Relation type
ENSG00000250082	TF binding region

Extended variants
information (count: 256 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534659	chr4:171386268-171386269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565545934	chr4:171386321-171386322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562195152	chr4:171386342-171386343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116807990	chr4:171386343-171386344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202083457	chr4:171386374-171386375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191424319	chr4:171386438-171386439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183948097	chr4:171386508-171386509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559200316	chr4:171386513-171386514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528813100	chr4:171386518-171386519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547247598	chr4:171386530-171386531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568687385	chr4:171386711-171386712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs207465254	chr4:171386718-171386719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35265747	chr4:171386737-171386738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146698575	chr4:171386738-171386739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561979518	chr4:171386777-171386778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113674191	chr4:171386783-171386784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114218317	chr4:171386816-171386817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111421570	chr4:171386867-171386868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111572125	chr4:171386872-171386873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532876818	chr4:171386900-171386901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147989041	chr4:171386919-171386920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190567234	chr4:171386925-171386926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555200459	chr4:171386933-171386934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573502550	chr4:171386949-171386950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544047144	chr4:171386955-171386956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79025055	chr4:171387005-171387006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141621735	chr4:171387006-171387007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576347603	chr4:171387013-171387014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532916711	chr4:171387020-171387021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545064531	chr4:171387030-171387031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150282847	chr4:171387036-171387037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544916199	chr4:171387071-171387072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138919350	chr4:171387133-171387134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546990020	chr4:171387168-171387169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532877419	chr4:171387170-171387171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376198712	chr4:171387175-171387176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182221169	chr4:171387177-171387178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551236693	chr4:171387193-171387194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186848136	chr4:171387195-171387196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562923856	chr4:171387196-171387197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530359465	chr4:171387237-171387238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190049253	chr4:171387326-171387327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78184747	chr4:171387355-171387356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114664020	chr4:171387423-171387424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555336039	chr4:171387430-171387431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181052797	chr4:171387435-171387436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544082326	chr4:171387527-171387528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185479174	chr4:171387559-171387560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149406404	chr4:171387608-171387609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544795224	chr4:171387622-171387623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171385600-171387400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:171386000-171387000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:171386400-171386800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:171386600-171387400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:171386600-171387400	Enhancers	HMEC	breast
6	chr4:171386800-171387200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:171387000-171387400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:171387400-171388800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:171389000-171389200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:171417800-171418000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:171418000-171418800	Active TSS	Dnd41	blood
12	chr4:171418000-171419000	Active TSS	GM12878-XiMat	blood
13	chr4:171418000-171419800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:171418200-171418400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:171418200-171418400	Active TSS	Brain Germinal Matrix	brain
16	chr4:171418200-171418600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:171418200-171418600	Active TSS	Right Atrium	heart
18	chr4:171418200-171418600	Active TSS	NH-A	brain
19	chr4:171418200-171418800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:171418200-171418800	Active TSS	Brain Angular Gyrus	brain
21	chr4:171418200-171418800	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:171418200-171418800	Active TSS	Brain Hippocampus Middle	brain
23	chr4:171418200-171418800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:171418200-171418800	Active TSS	Duodenum Mucosa	Duodenum
25	chr4:171418200-171418800	Active TSS	Fetal Kidney	kidney
26	chr4:171418200-171418800	Active TSS	Ovary	ovary
27	chr4:171418200-171418800	Active TSS	Thymus	Thymus
28	chr4:171418200-171418800	Active TSS	Hela-S3	cervix
29	chr4:171418200-171418800	Active TSS	HepG2	liver
30	chr4:171418200-171419000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:171418200-171419000	Active TSS	Primary B cells from cord blood	blood
32	chr4:171418200-171419000	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr4:171418200-171419000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:171418200-171419000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:171418200-171419000	Active TSS	Aorta	Aorta
36	chr4:171418200-171419000	Active TSS	Brain Anterior Caudate	brain
37	chr4:171418200-171419000	Active TSS	HMEC	breast
38	chr4:171418200-171419000	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:171418200-171419200	Active TSS	Primary hematopoietic stem cells	blood
40	chr4:171418200-171419200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:171418200-171419200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:171418400-171418800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:171418400-171418800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:171418400-171418800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:171418400-171418800	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr4:171418400-171418800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:171418400-171418800	Active TSS	A549	lung
48	chr4:171418400-171418800	Active TSS	Osteobl	bone
49	chr4:171418800-171419000	Flanking Active TSS	Fetal Kidney	kidney
50	chr4:171418800-171419000	Enhancers	Dnd41	blood

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