Variant report

Variant	nsv598706
Chromosome Location	chr5:77944054-77944718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:77943329-77944203	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr5:77943246-77944248	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944068-77944081 chr5:77944068-77944081
3	BCLAF1	chr5:77943183-77944315	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944281-77944294 chr5:77944068-77944081 chr5:77944068-77944081
4	BHLHE40	chr5:77944357-77944668	HepG2	liver:	n/a	n/a
5	BRCA1	chr5:77943784-77944110	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr5:77943698-77945144	K562	blood:	n/a	n/a
7	CEBPB	chr5:77944302-77944476	Hela-S3	cervix:	n/a	n/a
8	CEBPD	chr5:77944264-77944761	HepG2	liver:	n/a	n/a
9	CHD1	chr5:77943257-77944553	GM12878	blood:	n/a	n/a
10	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
11	CHD1	chr5:77944075-77944256	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr5:77943939-77944073	GM12878	blood:	n/a	n/a
13	CHD2	chr5:77944170-77944205	HepG2	liver:	n/a	n/a
14	CHD2	chr5:77944483-77944673	HepG2	liver:	n/a	n/a
15	CHD2	chr5:77944340-77945022	GM12878	blood:	n/a	n/a
16	CHD2	chr5:77943828-77944774	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr5:77944031-77945157	A549	lung:	n/a	n/a
18	CTBP2	chr5:77943776-77945110	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:77943940-77944090	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr5:77943940-77944090	GM12871	blood:	n/a	n/a
21	CTCF	chr5:77944100-77944250	GM12867	blood:	n/a	n/a
22	CTCF	chr5:77943942-77944122	NHEK	skin:	n/a	n/a
23	CTCF	chr5:77944340-77944490	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr5:77944380-77944530	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr5:77943940-77944090	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr5:77943970-77944075	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:77943980-77944130	HMF	breast:	n/a	n/a
28	CTCF	chr5:77943980-77944130	NHEK	skin:	n/a	n/a
29	CTCF	chr5:77944382-77944534	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:77944300-77944450	GM12869	blood:	n/a	n/a
31	CTCF	chr5:77944380-77944530	AG09319	gingival:	n/a	n/a
32	CTCF	chr5:77943926-77944155	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:77943758-77944280	K562	blood:	n/a	chr5:77943896-77943906
34	CTCF	chr5:77944280-77944430	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr5:77943980-77944130	AG09319	gingival:	n/a	n/a
36	CTCF	chr5:77944320-77944470	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr5:77943918-77944151	LNCaP	prostate:	n/a	n/a
38	CTCF	chr5:77944320-77944470	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr5:77943952-77944134	LNCaP	prostate:	n/a	n/a
40	CTCF	chr5:77943980-77944130	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr5:77943916-77944150	ProgFib	skin:	n/a	n/a
42	CTCF	chr5:77943937-77944092	GM10266	blood:	n/a	n/a
43	CTCF	chr5:77944280-77944430	AG04449	skin:	n/a	n/a
44	CTCF	chr5:77944300-77944450	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr5:77943940-77944090	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr5:77943912-77944136	Fibrobl	skin:	n/a	n/a
47	CTCF	chr5:77944180-77944330	GM12870	blood:	n/a	n/a
48	CTCF	chr5:77944360-77944510	Caco-2	colon:	n/a	n/a
49	CTCF	chr5:77943940-77944090	AG10803	skin:	n/a	n/a
50	CTCF	chr5:77943940-77944090	BJ	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:77944343-77944393	HNPCEpiC	eye:	n/a
2	chr5:77944343-77944393	Caco-2	colon:	n/a
3	chr5:77944343-77944393	IMR90	lung:	fetal
4	chr5:77944343-77944393	NB4	blood:	n/a
5	chr5:77944343-77944393	NT2-D1	testis:	n/a
6	chr5:77944343-77944393	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:77944343-77944393	HIPEpiC	eye:	n/a
8	chr5:77944343-77944393	SK-N-SH	brain:	n/a
9	chr5:77944343-77944393	PANC-1	pancreas:	n/a
10	chr5:77944343-77944393	HAEpiC	amniotic membrane:	n/a
11	chr5:77944343-77944393	CMK	blood:	n/a
12	chr5:77944343-77944393	HCPEpiC	choroid plexus:	n/a
13	chr5:77944343-77944393	SAEC	small airway:	n/a
14	chr5:77944343-77944393	U87	brain:	n/a
15	chr5:77944343-77944393	HCF	heart:	n/a
16	chr5:77944343-77944393	MCF-7	breast:	n/a
17	chr5:77944343-77944393	HEEpiC	esophagus:	n/a
18	chr5:77944343-77944393	AG10803	skin:	n/a
19	chr5:77944343-77944393	SKMC	muscle:	n/a
20	chr5:77944343-77944393	ECC-1	luminal epithelium:	n/a
21	chr5:77944343-77944393	ProgFib	skin:	n/a
22	chr5:77944343-77944393	AoSMC	blood vessel:	n/a
23	chr5:77944343-77944393	Hela-S3	cervix:	n/a
24	chr5:77944343-77944393	MCF10A-Er-Src	breast:	n/a
25	chr5:77944343-77944393	GM12891	blood:	n/a
26	chr5:77944343-77944393	AG09319	gingival:	n/a
27	chr5:77944343-77944393	K562	blood:	n/a
28	chr5:77944343-77944393	Hepatocyte	liver:	n/a
29	chr5:77944343-77944393	AG04449	skin:	fetal
30	chr5:77944343-77944393	ovcar-3	ovarian:	n/a
31	chr5:77944343-77944393	SK-N-MC	brain:	n/a
32	chr5:77944343-77944393	RPTEC	kidney:	n/a
33	chr5:77944343-77944393	PrEC	prostate:	n/a
34	chr5:77944343-77944393	LNCaP	prostate:	n/a
35	chr5:77944343-77944393	HRCEpiC	kidney:	n/a
36	chr5:77944343-77944393	NHBE	bronchial:	n/a
37	chr5:77944343-77944393	GM12878	blood:	n/a
38	chr5:77944343-77944393	GM19239	blood:	n/a
39	chr5:77944343-77944393	H1-hESC	embryonic stem cell:	embryo
40	chr5:77944343-77944393	NHDF-neo	bronchial:	n/a
41	chr5:77944343-77944393	HUVEC	blood vessel:	n/a
42	chr5:77944343-77944393	HRPEpiC	eye:	n/a
43	chr5:77944343-77944393	T-47D	breast:	n/a
44	chr5:77944343-77944393	Jurkat	blood:	n/a
45	chr5:77944343-77944393	AG04450	lung:	fetal
46	chr5:77944343-77944393	HCM	heart:	n/a
47	chr5:77944343-77944393	BJ	skin:	n/a
48	chr5:77944343-77944393	HepG2	liver:	n/a
49	chr5:77944343-77944393	HCT-116	colon:	n/a
50	chr5:77944343-77944393	AG09309	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:77943376..77944358-chr9:107509480..107510026,2	Hela-S3	cervix:
2	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:
3	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
4	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:

No data

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
HMGB1P21	CpG island
LHFPL2	CpG island
ENSG00000136783	chromatin interactions
ENSG00000145685	chromatin interactions
ENSG00000248909	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574444176	chr5:77944104-77944105	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540066807	chr5:77944121-77944122	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560252999	chr5:77944203-77944204	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs532306667	chr5:77944217-77944218	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546165892	chr5:77944218-77944219	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs562760893	chr5:77944284-77944285	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs150087159	chr5:77944305-77944306	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550972423	chr5:77944339-77944340	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs561249055	chr5:77944348-77944349	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530175870	chr5:77944413-77944414	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546890036	chr5:77944414-77944415	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567009231	chr5:77944417-77944418	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559274490	chr5:77944418-77944419	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552495149	chr5:77944433-77944434	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569183929	chr5:77944556-77944557	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537468610	chr5:77944614-77944615	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs341924	chr5:77944618-77944619	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112451911	chr5:77944653-77944654	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77941600-77945200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:77942200-77945000	Active TSS	GM12878-XiMat	blood
3	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
4	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
10	chr5:77942600-77945400	Active TSS	Aorta	Aorta
11	chr5:77942600-77945400	Active TSS	Ovary	ovary
12	chr5:77942800-77945000	Active TSS	HMEC	breast
13	chr5:77942800-77945200	Active TSS	HSMM	muscle
14	chr5:77942800-77945200	Active TSS	NHLF	lung
15	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
19	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:77943000-77944200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr5:77943000-77944200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr5:77943000-77944200	Active TSS	Stomach Mucosa	stomach
25	chr5:77943000-77944400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:77943000-77944400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:77943000-77945000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:77943000-77945000	Active TSS	Fetal Intestine Small	intestine
29	chr5:77943000-77945200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:77943000-77945200	Active TSS	A549	lung
31	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
34	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
39	chr5:77943200-77944200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr5:77943200-77944200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr5:77943200-77944200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:77943200-77944200	Flanking Active TSS	Spleen	Spleen
43	chr5:77943200-77945200	Active TSS	Lung	lung
44	chr5:77943200-77945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:77943200-77945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:77943200-77945400	Active TSS	Colon Smooth Muscle	Colon
47	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:77943200-77945600	Active TSS	HepG2	liver

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