Variant report

Variant	nsv1012210
Chromosome Location	chr4:28246489-28419673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:684)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:28326757-28326842	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:28388451-28388626	GM12878	blood:	n/a	n/a
3	BCL3	chr4:28289358-28289920	A549	lung:	n/a	n/a
4	BHLHE40	chr4:28249963-28250306	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:28250997-28251031	GM12878	blood:	n/a	n/a
6	BRCA1	chr4:28289186-28290284	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr4:28343642-28344004	HCT-116	colon:	n/a	n/a
8	CEBPB	chr4:28371101-28371445	Hela-S3	cervix:	n/a	chr4:28371255-28371266
9	CEBPB	chr4:28249505-28249739	HepG2	liver:	n/a	chr4:28249651-28249662
10	CEBPB	chr4:28293429-28293629	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:28343607-28343927	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:28312383-28312816	IMR90	lung:	n/a	chr4:28312694-28312703 chr4:28312525-28312536 chr4:28312523-28312536 chr4:28312525-28312536 chr4:28312523-28312534
13	CEBPB	chr4:28405660-28405956	IMR90	lung:	n/a	n/a
14	CEBPB	chr4:28289528-28289959	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr4:28375258-28375474	H1-hESC	embryonic stem cell:	n/a	chr4:28375352-28375363
16	CEBPB	chr4:28289394-28289978	A549	lung:	n/a	n/a
17	CEBPB	chr4:28375209-28375515	K562	blood:	n/a	chr4:28375352-28375363
18	CEBPB	chr4:28375043-28375520	Hela-S3	cervix:	n/a	chr4:28375352-28375363
19	CEBPB	chr4:28405651-28405923	A549	lung:	n/a	n/a
20	CEBPB	chr4:28289208-28290383	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr4:28416996-28417324	HepG2	liver:	n/a	chr4:28417145-28417156
22	CEBPB	chr4:28375151-28375617	IMR90	lung:	n/a	chr4:28375352-28375363
23	CEBPB	chr4:28256098-28256289	A549	lung:	n/a	chr4:28256223-28256234
24	CEBPB	chr4:28312386-28312576	HepG2	liver:	n/a	chr4:28312525-28312536 chr4:28312523-28312536 chr4:28312525-28312536 chr4:28312523-28312534
25	CEBPB	chr4:28405639-28405926	HepG2	liver:	n/a	n/a
26	CEBPB	chr4:28312383-28312709	Hela-S3	cervix:	n/a	chr4:28312694-28312703 chr4:28312525-28312536 chr4:28312523-28312536 chr4:28312525-28312536 chr4:28312523-28312534
27	CEBPB	chr4:28416982-28417305	IMR90	lung:	n/a	chr4:28417145-28417156
28	CEBPB	chr4:28389924-28390443	IMR90	lung:	n/a	n/a
29	CEBPB	chr4:28289227-28290057	A549	lung:	n/a	n/a
30	CEBPB	chr4:28375169-28375539	HepG2	liver:	n/a	chr4:28375352-28375363
31	CEBPB	chr4:28248093-28248369	HepG2	liver:	n/a	chr4:28248210-28248227
32	CEBPB	chr4:28289594-28289896	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr4:28405644-28405975	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr4:28289429-28289908	A549	lung:	n/a	n/a
35	CEBPB	chr4:28371126-28371438	HepG2	liver:	n/a	chr4:28371255-28371266
36	CEBPB	chr4:28256215-28256287	HepG2	liver:	n/a	chr4:28256223-28256234
37	CEBPB	chr4:28371159-28371430	A549	lung:	n/a	chr4:28371255-28371266
38	CEBPB	chr4:28371070-28371522	IMR90	lung:	n/a	chr4:28371255-28371266
39	CEBPB	chr4:28375189-28375517	A549	lung:	n/a	chr4:28375352-28375363
40	CEBPB	chr4:28289554-28289859	MCF-7	breast:	n/a	n/a
41	CEBPB	chr4:28256122-28256333	IMR90	lung:	n/a	chr4:28256223-28256234
42	CEBPB	chr4:28289239-28290350	IMR90	lung:	n/a	n/a
43	CEBPB	chr4:28416991-28417301	A549	lung:	n/a	chr4:28417145-28417156
44	CEBPB	chr4:28352159-28352506	IMR90	lung:	n/a	chr4:28352486-28352499
45	CHD2	chr4:28289405-28289852	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr4:28249909-28250280	GM12878	blood:	n/a	n/a
47	CREB1	chr4:28289597-28289827	A549	lung:	n/a	n/a
48	CTCF	chr4:28380040-28380190	HVMF	connective:	n/a	n/a
49	CTCF	chr4:28359880-28360030	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr4:28380120-28380270	HCM	heart:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
2	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
3	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
4	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
5	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
6	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
7	chr4:28372854..28374483-chr4:28376190..28379147,2	K562	blood:
8	chr4:28375818..28378318-chr4:28378628..28381458,2	MCF-7	breast:
9	chr17:21448876..21451207-chr4:28392146..28394451,2	MCF-7	breast:
10	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
11	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
12	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
13	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
14	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
15	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
16	chr4:28375818..28378318-chr4:28378628..28381458,2	MCF-7	breast:
17	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
18	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
19	chr4:28372854..28374483-chr4:28376190..28379147,2	K562	blood:
20	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
21	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
22	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
23	chr4:28418048..28418924-chr6:12148728..12149328,2	MCF-7	breast:
24	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
25	chr12:54610784..54611389-chr4:28303417..28303937,3	K562	blood:
26	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
27	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
28	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
29	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
30	chr4:28398298..28400403-chr4:28402842..28404450,2	MCF-7	breast:
31	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-5	chr4:28363940-28364214	XLOC_003917
2	lnc-CCKAR-5	chr4:28364016-28364214	XLOC_003917
3	lnc-CCKAR-5	chr4:28372322-28372431	XLOC_003917
4	lnc-CCKAR-5	chr4:28394826-28394837	XLOC_003917
5	lnc-CCKAR-5	chr4:28372322-28372431	XLOC_003917
6	lnc-CCKAR-5	chr4:28389343-28389444	XLOC_003917

No data

Variant related genes	Relation type
ENSG00000250038	TF binding region
ENSG00000250038	chromatin interactions
MPL	miRNA target sites
SLC37A3	miRNA target sites
SLC37A2	miRNA target sites
MPHOSPH9	miRNA target sites

Extended variants
information (count: 4978 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4978 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538600105	chr4:28246517-28246518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114141159	chr4:28246522-28246523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11726494	chr4:28246566-28246567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544513372	chr4:28246592-28246593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561062789	chr4:28246603-28246604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182604367	chr4:28246625-28246626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369929629	chr4:28246634-28246635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147972992	chr4:28246640-28246641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192578718	chr4:28246680-28246681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552620287	chr4:28246697-28246698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528566453	chr4:28246704-28246705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551334109	chr4:28246730-28246731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13138788	chr4:28246734-28246735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565297080	chr4:28246737-28246738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138044878	chr4:28246761-28246762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561473001	chr4:28246766-28246767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143497291	chr4:28246769-28246770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549839092	chr4:28246790-28246791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56691107	chr4:28246801-28246802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185060315	chr4:28246805-28246806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187869009	chr4:28246830-28246831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192343043	chr4:28246842-28246843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369453676	chr4:28246853-28246854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538763525	chr4:28246871-28246872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532268758	chr4:28246885-28246886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555112886	chr4:28246895-28246896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568820151	chr4:28246955-28246956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537471469	chr4:28246974-28246975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554846776	chr4:28246975-28246976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552260458	chr4:28246986-28246987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574433108	chr4:28247004-28247005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539990676	chr4:28247005-28247006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553570952	chr4:28247006-28247007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562259510	chr4:28247012-28247013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377673437	chr4:28247014-28247015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565867757	chr4:28247030-28247031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115751251	chr4:28247064-28247065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202085903	chr4:28247068-28247069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13115533	chr4:28247071-28247072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372785655	chr4:28247077-28247078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530928375	chr4:28247126-28247127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116084502	chr4:28247130-28247131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554736607	chr4:28247153-28247154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561585854	chr4:28247156-28247157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11945720	chr4:28247163-28247164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547189574	chr4:28247175-28247176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11945664	chr4:28247220-28247221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35273359	chr4:28247237-28247238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11932229	chr4:28247238-28247239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568906539	chr4:28247259-28247260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28235000-28279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28241200-28248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:28248600-28248800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:28249600-28250200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:28249800-28250000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:28249800-28250200	Enhancers	Brain Substantia Nigra	brain
7	chr4:28250000-28255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:28250200-28250600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:28250600-28251200	Enhancers	Brain Substantia Nigra	brain
10	chr4:28250800-28251200	Enhancers	Brain Angular Gyrus	brain
11	chr4:28250800-28251600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:28251000-28252600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:28251200-28251600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:28251400-28252000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:28252200-28252800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:28253400-28253600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:28253400-28253600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:28253400-28253800	Enhancers	NHEK	skin
19	chr4:28254600-28255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:28255400-28255800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:28255400-28255800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:28255400-28255800	Enhancers	Fetal Muscle Trunk	muscle
23	chr4:28255400-28256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:28256000-28259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:28267200-28268200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:28268200-28270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:28270400-28272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:28271000-28272600	Enhancers	A549	lung
29	chr4:28271600-28272000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:28272000-28272200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:28272600-28279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:28278400-28278600	Enhancers	Brain Angular Gyrus	brain
33	chr4:28278400-28278600	Enhancers	Brain Anterior Caudate	brain
34	chr4:28278400-28278600	Enhancers	Brain Substantia Nigra	brain
35	chr4:28278600-28280000	Weak transcription	Brain Anterior Caudate	brain
36	chr4:28278600-28280200	Weak transcription	Brain Substantia Nigra	brain
37	chr4:28278800-28280000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:28279000-28280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:28279200-28282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:28279400-28280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:28279400-28282400	Enhancers	NHEK	skin
42	chr4:28279600-28280000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:28279600-28280400	Enhancers	Stomach Mucosa	stomach
44	chr4:28279600-28280400	Enhancers	HSMM	muscle
45	chr4:28279600-28281400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:28279600-28282000	Enhancers	Brain Hippocampus Middle	brain
47	chr4:28279600-28282000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr4:28279600-28282200	Enhancers	HMEC	breast
49	chr4:28279600-28282400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:28279600-28282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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