Variant report

Variant	nsv596168
Chromosome Location	chr4:171642051-171688868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:171644369-171644648	HepG2	liver:	n/a	chr4:171644495-171644506
2	CTCF	chr4:171671756-171671968	MCF-7	breast:	n/a	chr4:171671861-171671879
3	CTCF	chr4:171671780-171671930	HepG2	liver:	n/a	chr4:171671861-171671879
4	CTCF	chr4:171671793-171671951	NHEK	skin:	n/a	chr4:171671861-171671879
5	CTCF	chr4:171671820-171671970	BE2_C	brain:	n/a	chr4:171671861-171671879
6	CTCF	chr4:171685844-171685874	GM12891	blood:	n/a	n/a
7	CTCF	chr4:171671760-171671910	WERI-Rb-1	eye:	n/a	chr4:171671861-171671879
8	CTCF	chr4:171671760-171671910	GM12869	blood:	n/a	chr4:171671861-171671879
9	CTCF	chr4:171671740-171671890	HVMF	connective:	n/a	chr4:171671861-171671879
10	CTCF	chr4:171671800-171671950	GM12873	blood:	n/a	chr4:171671861-171671879
11	CTCF	chr4:171676606-171676641	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr4:171671740-171671890	GM12874	blood:	n/a	chr4:171671861-171671879
13	CTCF	chr4:171677920-171678070	MCF-7	breast:	n/a	n/a
14	CTCF	chr4:171678004-171678038	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:171671740-171671890	Caco-2	colon:	n/a	chr4:171671861-171671879
16	CTCF	chr4:171671740-171671890	A549	lung:	n/a	chr4:171671861-171671879
17	CTCF	chr4:171677940-171678090	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:171671900-171672050	HCT-116	colon:	n/a	n/a
19	CTCF	chr4:171671780-171671930	GM12865	blood:	n/a	chr4:171671861-171671879
20	CTCF	chr4:171671809-171671939	MCF-7	breast:	n/a	chr4:171671861-171671879
21	CTCF	chr4:171671800-171671918	HepG2	liver:	n/a	chr4:171671861-171671879
22	CTCF	chr4:171671775-171671880	SK-N-SH_RA	brain:	n/a	chr4:171671861-171671879
23	CTCF	chr4:171671834-171671877	GM19239	blood:	n/a	n/a
24	CTCF	chr4:171671740-171671890	GM12865	blood:	n/a	chr4:171671861-171671879
25	CTCF	chr4:171671780-171671950	MCF-7	breast:	n/a	chr4:171671861-171671879
26	CTCF	chr4:171671760-171671910	HEK293	kidney:	n/a	chr4:171671861-171671879
27	CTCF	chr4:171677962-171678067	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:171671829-171671891	GM13977	blood:	n/a	chr4:171671861-171671879
29	CTCF	chr4:171671960-171672110	GM12871	blood:	n/a	n/a
30	CTCF	chr4:171671760-171671910	MCF-7	breast:	n/a	chr4:171671861-171671879
31	CTCF	chr4:171671780-171671930	GM12872	blood:	n/a	chr4:171671861-171671879
32	CTCF	chr4:171671732-171671977	MCF-7	breast:	n/a	chr4:171671861-171671879
33	CTCF	chr4:171671803-171671951	Gliobla	brain:	n/a	chr4:171671861-171671879
34	CTCF	chr4:171671840-171671990	GM06990	blood:	n/a	chr4:171671861-171671879
35	CTCF	chr4:171664000-171664150	GM12870	blood:	n/a	n/a
36	CTCF	chr4:171671804-171671918	GM12878	blood:	n/a	chr4:171671861-171671879
37	CTCF	chr4:171671773-171671968	MCF-7	breast:	n/a	chr4:171671861-171671879
38	CTCF	chr4:171671853-171671879	GM19238	blood:	n/a	chr4:171671861-171671879
39	CTCF	chr4:171671753-171671977	MCF-7	breast:	n/a	chr4:171671861-171671879
40	CTCF	chr4:171671800-171671950	SK-N-SH_RA	brain:	n/a	chr4:171671861-171671879
41	CTCF	chr4:171671780-171671930	Hela-S3	cervix:	n/a	chr4:171671861-171671879
42	CTCF	chr4:171671690-171672027	MCF-7	breast:	n/a	chr4:171671861-171671879
43	CTCF	chr4:171671780-171671930	GM12868	blood:	n/a	chr4:171671861-171671879
44	CTCF	chr4:171671829-171671889	GM12892	blood:	n/a	chr4:171671861-171671879
45	CUX1	chr4:171680031-171680441	GM12878	blood:	n/a	n/a
46	E2F4	chr4:171658128-171658317	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr4:171680940-171681049	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr4:171649969-171650145	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr4:171680308-171680379	GM12878	blood:	n/a	n/a
50	EBF1	chr4:171666546-171666554	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:171663610-171663660	CMK	blood:	n/a
2	chr4:171663610-171663660	Caco-2	colon:	n/a
3	chr4:171663610-171663660	HL-60	blood:	n/a
4	chr4:171663610-171663660	AG09309	skin:	n/a
5	chr4:171663610-171663660	HRCEpiC	kidney:	n/a
6	chr4:171663610-171663660	HCM	heart:	n/a
7	chr4:171663610-171663660	U87	brain:	n/a
8	chr4:171663610-171663660	Hela-S3	cervix:	n/a
9	chr4:171663610-171663660	AG10803	skin:	n/a
10	chr4:171663610-171663660	HRE	kidney:	n/a
11	chr4:171663610-171663660	K562	blood:	n/a
12	chr4:171663610-171663660	GM12891	blood:	n/a
13	chr4:171663610-171663660	HPAEpiC	pulmonary alveolar:	n/a
14	chr4:171663610-171663660	HRPEpiC	eye:	n/a
15	chr4:171663610-171663660	SK-N-MC	brain:	n/a
16	chr4:171663610-171663660	GM19239	blood:	n/a
17	chr4:171663610-171663660	A549	lung:	n/a
18	chr4:171663610-171663660	HAEpiC	amniotic membrane:	n/a
19	chr4:171663610-171663660	Jurkat	blood:	n/a
20	chr4:171663610-171663660	NB4	blood:	n/a
21	chr4:171663610-171663660	NT2-D1	testis:	n/a
22	chr4:171663610-171663660	ProgFib	skin:	n/a
23	chr4:171663610-171663660	MCF10A-Er-Src	breast:	n/a
24	chr4:171663610-171663660	RPTEC	kidney:	n/a
25	chr4:171663610-171663660	HCPEpiC	choroid plexus:	n/a
26	chr4:171663610-171663660	SKMC	muscle:	n/a
27	chr4:171663610-171663660	HIPEpiC	eye:	n/a
28	chr4:171663610-171663660	T-47D	breast:	n/a
29	chr4:171663610-171663660	BJ	skin:	n/a
30	chr4:171663610-171663660	HCF	heart:	n/a
31	chr4:171663610-171663660	AG09319	gingival:	n/a
32	chr4:171663610-171663660	AoSMC	blood vessel:	n/a
33	chr4:171663610-171663660	MCF-7	breast:	n/a
34	chr4:171663610-171663660	HUVEC	blood vessel:	n/a
35	chr4:171663610-171663660	PANC-1	pancreas:	n/a
36	chr4:171663610-171663660	SAEC	small airway:	n/a
37	chr4:171663610-171663660	Hepatocyte	liver:	n/a
38	chr4:171663610-171663660	ovcar-3	ovarian:	n/a
39	chr4:171663610-171663660	HEK293	kidney:	embryo
40	chr4:171663610-171663660	HepG2	liver:	n/a
41	chr4:171663610-171663660	HNPCEpiC	eye:	n/a
42	chr4:171663610-171663660	HMEC	breast:	n/a
43	chr4:171663610-171663660	GM12892	blood:	n/a
44	chr4:171663610-171663660	BE2_C	brain:	n/a
45	chr4:171663610-171663660	H1-hESC	embryonic stem cell:	embryo
46	chr4:171663610-171663660	IMR90	lung:	fetal
47	chr4:171663610-171663660	ECC-1	luminal epithelium:	n/a
48	chr4:171663610-171663660	SK-N-SH_RA	brain:	n/a
49	chr4:171663610-171663660	AG04450	lung:	fetal
50	chr4:171663610-171663660	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:171671477..171672293-chr4:171774330..171775293,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-3	chr4:171663746-171664179	NONHSAT099189
2	lnc-AADAT-3	chr4:171663302-171663311	NONHSAT099189
3	lnc-AADAT-3	chr4:171664816-171664886	NONHSAT099189
4	lnc-AADAT-3	chr4:171664816-171664869	XLOC_004157
5	lnc-AADAT-3	chr4:171663620-171664179	XLOC_004157

Variant related genes	Relation type
ENSG00000250968	TF binding region
ENSG00000250968	CpG island
KHSRP	miRNA target sites
KEAP1	miRNA target sites

Extended variants
information (count: 739 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1568621	chr4:171642051-171642052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561332649	chr4:171642064-171642065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1568620	chr4:171642070-171642071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139033563	chr4:171642120-171642121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565045355	chr4:171642153-171642154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532429817	chr4:171642198-171642199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547300585	chr4:171642228-171642229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529335041	chr4:171642251-171642252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188637150	chr4:171642256-171642257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192954303	chr4:171642297-171642298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183199336	chr4:171642341-171642342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569363834	chr4:171642350-171642351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79655945	chr4:171642368-171642369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143774871	chr4:171642378-171642379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571893208	chr4:171642383-171642384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187068311	chr4:171642384-171642385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114370822	chr4:171642404-171642405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9991006	chr4:171642456-171642457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572695852	chr4:171642487-171642488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543216506	chr4:171642582-171642583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191106933	chr4:171642585-171642586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537442706	chr4:171642666-171642667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183657211	chr4:171642673-171642674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115244378	chr4:171642690-171642691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565258900	chr4:171642737-171642738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59492309	chr4:171642748-171642749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186806551	chr4:171642749-171642750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529840689	chr4:171642794-171642795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147215075	chr4:171642821-171642822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569691711	chr4:171642828-171642829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530625952	chr4:171642876-171642877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140535990	chr4:171642888-171642889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1915996	chr4:171642907-171642908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149725058	chr4:171642909-171642910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144525930	chr4:171642965-171642966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554528435	chr4:171642972-171642973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193253162	chr4:171642981-171642982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148429876	chr4:171642992-171642993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555194020	chr4:171642993-171642994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576509301	chr4:171643020-171643021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79150480	chr4:171643051-171643052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185665792	chr4:171643060-171643061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190181945	chr4:171643065-171643066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1915995	chr4:171643089-171643090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9991446	chr4:171643098-171643099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559230789	chr4:171643105-171643106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181790018	chr4:171643139-171643140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577627938	chr4:171643150-171643151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539681048	chr4:171643260-171643261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541669466	chr4:171643278-171643279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171641200-171650000	Weak transcription	Fetal Kidney	kidney
2	chr4:171642000-171649200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:171649200-171649800	Enhancers	Primary B cells from cord blood	blood
4	chr4:171649600-171651200	Enhancers	GM12878-XiMat	blood
5	chr4:171650000-171650800	Enhancers	Fetal Kidney	kidney
6	chr4:171657400-171657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:171657600-171658400	Enhancers	NHEK	skin
8	chr4:171657600-171658600	Enhancers	HMEC	breast
9	chr4:171658600-171661600	Weak transcription	HMEC	breast
10	chr4:171659200-171663000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:171660000-171660200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:171661600-171662000	Enhancers	HMEC	breast
13	chr4:171662000-171663000	Weak transcription	HMEC	breast
14	chr4:171662600-171663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:171663000-171663400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:171663000-171663600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:171663000-171663600	Enhancers	HMEC	breast
18	chr4:171663000-171664600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:171663200-171664200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:171663400-171663600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:171663400-171663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:171663400-171664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:171663400-171664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:171663600-171664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:171664600-171665000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:171671600-171672000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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