Variant report

Variant	nsv596170
Chromosome Location	chr4:172089287-172147897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:172104656-172104928	A549	lung:	n/a	chr4:172104694-172104707
2	CEBPB	chr4:172125836-172126036	HepG2	liver:	n/a	chr4:172125958-172125969
3	CEBPB	chr4:172114889-172115000	HepG2	liver:	n/a	chr4:172114924-172114935
4	CEBPB	chr4:172124641-172125050	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr4:172104756-172105053	HepG2	liver:	n/a	chr4:172104935-172104946
6	CTCF	chr4:172108034-172108095	Gliobla	brain:	n/a	n/a
7	CTCF	chr4:172118480-172118630	GM12864	blood:	n/a	n/a
8	CTCF	chr4:172108040-172108190	GM12865	blood:	n/a	n/a
9	CTCF	chr4:172107933-172108151	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:172108040-172108190	GM06990	blood:	n/a	n/a
11	CTCF	chr4:172108014-172108133	LNCaP	prostate:	n/a	n/a
12	CTCF	chr4:172107945-172108251	T-47D	breast:	n/a	n/a
13	CTCF	chr4:172107880-172108090	GM12864	blood:	n/a	n/a
14	CTCF	chr4:172108037-172108113	GM19240	blood:	n/a	n/a
15	CTCF	chr4:172107940-172108090	GM06990	blood:	n/a	n/a
16	CTCF	chr4:172107972-172108124	HepG2	liver:	n/a	n/a
17	CTCF	chr4:172090872-172090874	GM20000	blood:	n/a	n/a
18	CTCF	chr4:172108060-172108210	HRE	kidney:	n/a	n/a
19	CTCF	chr4:172095523-172095564	Lung_OC	lung:	n/a	n/a
20	CTCF	chr4:172107500-172107650	Caco-2	colon:	n/a	n/a
21	CTCF	chr4:172108043-172108126	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr4:172108003-172108114	Medullo	brain:	n/a	n/a
23	CTCF	chr4:172107980-172108130	HMEC	breast:	n/a	n/a
24	CTCF	chr4:172108000-172108150	HepG2	liver:	n/a	n/a
25	CTCF	chr4:172108033-172108102	GM19239	blood:	n/a	n/a
26	CTCF	chr4:172108038-172108052	GM13976	blood:	n/a	n/a
27	CTCF	chr4:172107920-172108070	HMEC	breast:	n/a	n/a
28	CTCF	chr4:172107939-172108187	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:172108020-172108170	RPTEC	kidney:	n/a	n/a
30	CTCF	chr4:172107940-172108090	Caco-2	colon:	n/a	n/a
31	CTCF	chr4:172090798-172090863	GM20000	blood:	n/a	n/a
32	CTCF	chr4:172107987-172108169	HepG2	liver:	n/a	n/a
33	CTCF	chr4:172108377-172108547	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:172107854-172108180	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:172107889-172108595	GM12878	blood:	n/a	n/a
36	CTCF	chr4:172108413-172108506	GM12878	blood:	n/a	n/a
37	CTCF	chr4:172108001-172108120	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:172107989-172108148	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr4:172107940-172108090	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr4:172108460-172108610	GM12865	blood:	n/a	n/a
41	CTCF	chr4:172108060-172108210	RPTEC	kidney:	n/a	n/a
42	CTCF	chr4:172107940-172108090	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:172107880-172108030	BE2_C	brain:	n/a	n/a
44	CTCF	chr4:172107980-172108130	Caco-2	colon:	n/a	n/a
45	CTCF	chr4:172108055-172108085	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr4:172107984-172108168	GM12878	blood:	n/a	n/a
47	CTCF	chr4:172107940-172108090	GM12873	blood:	n/a	n/a
48	CTCF	chr4:172108020-172108170	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:172107960-172108110	GM12874	blood:	n/a	n/a
50	CTCF	chr4:172108020-172108170	NB4	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:171912038..171912871-chr4:172107600..172108526,5	MCF-7	breast:
2	chr4:171929252..171929804-chr4:172107612..172108208,2	MCF-7	breast:
3	chr4:171988510..171989198-chr4:172107647..172108598,3	MCF-7	breast:
4	chr4:172107475..172108527-chr4:172706281..172707121,4	MCF-7	breast:
5	chr4:171988253..171989053-chr4:172107601..172108441,2	MCF-7	breast:
6	chr4:171180830..171181408-chr4:172107535..172108542,3	MCF-7	breast:
7	chr4:171796784..171797466-chr4:172107812..172108701,2	MCF-7	breast:
8	chr4:172108195..172108993-chr4:173123571..173124091,2	MCF-7	breast:
9	chr4:172107312..172109351-chr4:172113285..172116114,4	MCF-7	breast:
10	chr4:171510438..171511386-chr4:172107962..172108533,2	MCF-7	breast:
11	chr4:172107312..172109351-chr4:172113285..172116114,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALNTL6-4	chr4:172136919-172136961	l_2776_chr4:172136918-172152369_testes
2	lnc-AADAT-12	chr4:172090360-172091093	NONHSAT099198

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6082	chr4:172107340-172107358	MIMAT0023707

No data

Variant related genes	Relation type
ENSG00000248755	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17195349	chr4:172090367-172090368	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545215382	chr4:172090374-172090375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs17195384	chr4:172090407-172090408	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527625038	chr4:172090415-172090416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547384808	chr4:172090421-172090422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567618514	chr4:172090452-172090453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530141231	chr4:172090463-172090464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181365228	chr4:172090469-172090470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570200591	chr4:172090493-172090494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538836852	chr4:172090508-172090509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559145313	chr4:172090543-172090544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs566149561	chr4:172090550-172090551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535273062	chr4:172090559-172090560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs10027919	chr4:172090576-172090577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545648561	chr4:172090580-172090581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs72710147	chr4:172090581-172090582	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144790462	chr4:172090594-172090595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs112235643	chr4:172090630-172090631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555817504	chr4:172090672-172090673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576135541	chr4:172090729-172090730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs186518474	chr4:172090741-172090742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs6816290	chr4:172090742-172090743	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565050637	chr4:172090743-172090744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs367844548	chr4:172090753-172090754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs148557487	chr4:172090803-172090804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370961502	chr4:172090852-172090853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs561185250	chr4:172090868-172090869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs545240775	chr4:172090887-172090888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs142895624	chr4:172090896-172090897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561342716	chr4:172090927-172090928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs550228488	chr4:172090952-172090953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs72975054	chr4:172090956-172090957	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113101813	chr4:172090977-172090978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs552390159	chr4:172090989-172090990	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374554158	chr4:172091019-172091020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534921047	chr4:172091023-172091024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs548457612	chr4:172091048-172091049	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs568442371	chr4:172091082-172091083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs538681749	chr4:172091376-172091377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112743370	chr4:172091399-172091400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs191102607	chr4:172091415-172091416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10028706	chr4:172091451-172091452	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183498488	chr4:172091480-172091481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541264062	chr4:172091489-172091490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561146646	chr4:172091500-172091501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574834473	chr4:172091564-172091565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568407485	chr4:172091904-172091905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs534938141	chr4:172092508-172092509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs559793384	chr4:172092583-172092584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10011325	chr4:172092590-172092591	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172102200-172102600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172113600-172114000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:172123800-172124400	Enhancers	Pancreas	Pancrea
4	chr4:172123800-172124400	Enhancers	A549	lung
5	chr4:172124400-172125400	Weak transcription	A549	lung
6	chr4:172124600-172125000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:172124600-172125000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:172124800-172125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:172125400-172125600	Enhancers	A549	lung
10	chr4:172142200-172142600	Enhancers	Pancreas	Pancrea

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