Variant report

Variant	nsv967733
Chromosome Location	chr4:22595783-22611675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:294)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:22597318-22597734	GM12878	blood:	n/a	n/a
2	BATF	chr4:22601520-22601932	GM12878	blood:	n/a	n/a
3	BATF	chr4:22597162-22597792	GM12878	blood:	n/a	n/a
4	BATF	chr4:22606760-22606960	GM12878	blood:	n/a	n/a
5	BATF	chr4:22597407-22597668	GM12878	blood:	n/a	n/a
6	BATF	chr4:22601547-22601922	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:22597442-22597626	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:22597323-22597768	GM12878	blood:	n/a	n/a
9	BCLAF1	chr4:22597480-22597752	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:22596931-22597736	GM12878	blood:	n/a	n/a
11	CHD1	chr4:22597008-22597194	GM12878	blood:	n/a	n/a
12	CHD1	chr4:22597526-22597852	GM12878	blood:	n/a	n/a
13	CHD2	chr4:22608992-22609179	HepG2	liver:	n/a	n/a
14	CHD2	chr4:22609035-22609302	GM12878	blood:	n/a	n/a
15	CHD2	chr4:22601347-22601539	GM12878	blood:	n/a	n/a
16	CHD2	chr4:22597442-22597719	GM12878	blood:	n/a	n/a
17	CTCF	chr4:22609081-22609220	GM20000	blood:	n/a	n/a
18	CTCF	chr4:22609100-22609250	GM12865	blood:	n/a	n/a
19	CTCF	chr4:22609060-22609210	HRE	kidney:	n/a	n/a
20	CTCF	chr4:22609080-22609230	HMF	breast:	n/a	n/a
21	CTCF	chr4:22609060-22609210	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr4:22609060-22609210	BE2_C	brain:	n/a	n/a
23	CTCF	chr4:22609080-22609230	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr4:22609022-22609257	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr4:22609100-22609250	GM12875	blood:	n/a	n/a
26	CTCF	chr4:22609080-22609230	HPF	lung:	n/a	n/a
27	CTCF	chr4:22609100-22609250	AG09309	skin:	n/a	n/a
28	CTCF	chr4:22609036-22609286	A549	lung:	n/a	n/a
29	CTCF	chr4:22609100-22609250	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:22609060-22609210	HCFaa	heart:	n/a	n/a
31	CTCF	chr4:22609080-22609230	GM12866	blood:	n/a	n/a
32	CTCF	chr4:22609100-22609250	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr4:22609120-22609270	GM12871	blood:	n/a	n/a
34	CTCF	chr4:22609120-22609270	GM12874	blood:	n/a	n/a
35	CTCF	chr4:22609023-22609303	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr4:22608907-22609336	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:22609440-22609590	AG09319	gingival:	n/a	n/a
38	CTCF	chr4:22609060-22609210	A549	lung:	n/a	n/a
39	CTCF	chr4:22609046-22609252	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:22609100-22609250	GM12878	blood:	n/a	n/a
41	CTCF	chr4:22609080-22609230	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr4:22609040-22609260	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr4:22609160-22609310	HCT-116	colon:	n/a	n/a
44	CTCF	chr4:22609120-22609270	HRE	kidney:	n/a	n/a
45	CTCF	chr4:22609020-22609170	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr4:22609027-22609292	MCF-7	breast:	n/a	n/a
47	CTCF	chr4:22609060-22609210	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr4:22609060-22609210	HCM	heart:	n/a	n/a
49	CTCF	chr4:22609033-22609289	ProgFib	skin:	n/a	n/a
50	CTCF	chr4:22609060-22609210	NHDF-neo	bronchial:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:24510025..24511017-chr4:22608413..22609080,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-9	chr4:22595819-22596073	NONHSAT095763
2	lnc-PACRGL-12	chr4:22610306-22610433	ucscGeneNc_uc003gqr_1
3	lnc-PACRGL-12	chr4:22608315-22608334	l_2614_chr4:22608314-22651921_testes
4	lnc-PACRGL-10	chr4:22609124-22609169	NONHSAT095765
5	lnc-PACRGL-10	chr4:22611344-22611472	NONHSAT095765
6	lnc-PACRGL-12	chr4:22610306-22610433	l_2614_chr4:22608314-22651921_testes
7	lnc-PACRGL-12	chr4:22608272-22608334	ucscGeneNc_uc003gqr_1

No data

Variant related genes	Relation type
ENSG00000244538	TF binding region
ENSG00000251516	TF binding region

Extended variants
information (count: 500 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553657586	chr4:22595798-22595799	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs578059213	chr4:22595829-22595830	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539056018	chr4:22595845-22595846	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs2618961	chr4:22595849-22595850	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs2618962	chr4:22595940-22595941	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs10938916	chr4:22595943-22595944	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531667077	chr4:22595974-22595975	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs11935916	chr4:22596031-22596032	Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577044875	chr4:22596034-22596035	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540139043	chr4:22596045-22596046	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs564853843	chr4:22596099-22596100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59149707	chr4:22596128-22596129	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115133713	chr4:22596161-22596162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2249198	chr4:22596620-22596621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112907744	chr4:22596665-22596666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557381884	chr4:22596686-22596687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146090780	chr4:22596734-22596735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60398099	chr4:22596764-22596765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555076842	chr4:22596806-22596807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570498811	chr4:22596836-22596837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2249297	chr4:22596846-22596847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184445143	chr4:22596849-22596850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564794291	chr4:22596858-22596859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576738369	chr4:22596860-22596861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2249298	chr4:22596872-22596873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189275132	chr4:22596888-22596889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529723418	chr4:22596889-22596890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71608927	chr4:22596912-22596913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61001892	chr4:22596916-22596917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560208474	chr4:22596931-22596932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60281621	chr4:22596936-22596937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370012721	chr4:22596937-22596938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78078937	chr4:22597021-22597022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547224355	chr4:22597141-22597142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375748327	chr4:22597156-22597157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571909926	chr4:22597171-22597172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532849815	chr4:22597194-22597195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554867503	chr4:22597209-22597210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55705193	chr4:22597234-22597235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551322464	chr4:22597245-22597246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149814649	chr4:22597284-22597285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200008610	chr4:22597330-22597331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200708192	chr4:22597338-22597339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200747431	chr4:22597339-22597340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201575357	chr4:22597344-22597345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77655369	chr4:22597376-22597377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192679842	chr4:22597416-22597417	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185558667	chr4:22597429-22597430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145890676	chr4:22597432-22597433	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139222385	chr4:22597436-22597437	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22595400-22596200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:22596600-22599400	Enhancers	Fetal Heart	heart
3	chr4:22596800-22597600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:22596800-22600000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:22596800-22600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:22597000-22597600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:22597200-22597400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr4:22597400-22597800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:22597600-22598200	Enhancers	HSMMtube	muscle
10	chr4:22597600-22598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:22597600-22600000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:22597600-22600200	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:22597800-22598400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr4:22598000-22598200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:22598400-22598600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:22598400-22599200	Enhancers	Fetal Lung	lung
17	chr4:22598600-22599000	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:22598800-22599000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:22598800-22600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:22599000-22599200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:22599000-22599400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:22599200-22599600	Enhancers	Fetal Muscle Leg	muscle
23	chr4:22599200-22600200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:22599200-22600800	Enhancers	Fetal Intestine Large	intestine
25	chr4:22600400-22600600	Enhancers	Pancreas	Pancrea
26	chr4:22600600-22601600	Weak transcription	Pancreas	Pancrea
27	chr4:22601400-22602400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:22601600-22602000	Enhancers	Pancreas	Pancrea
29	chr4:22607000-22609600	Enhancers	Fetal Heart	heart
30	chr4:22608000-22608400	Enhancers	Fetal Intestine Large	intestine
31	chr4:22608000-22609000	Enhancers	Liver	Liver
32	chr4:22608000-22610200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:22608200-22608600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:22608200-22609200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:22608200-22609800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:22608200-22610400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:22608200-22610400	Enhancers	Dnd41	blood
38	chr4:22608200-22611600	Enhancers	Fetal Thymus	thymus
39	chr4:22608200-22612000	Enhancers	Primary T cells from cord blood	blood
40	chr4:22608200-22612200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:22608400-22609200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:22608400-22609400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:22608600-22609600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:22608600-22611400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr4:22608800-22609800	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:22608800-22609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:22608800-22611000	Enhancers	Thymus	Thymus
48	chr4:22609000-22612000	Weak transcription	Liver	Liver
49	chr4:22609600-22615000	Weak transcription	Fetal Heart	heart
50	chr4:22609800-22610400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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