Variant report

Variant	nsv598964
Chromosome Location	chr5:96612401-96705762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:96632846-96633044	HepG2	liver:	n/a	n/a
2	ATF2	chr5:96691322-96691778	GM12878	blood:	n/a	n/a
3	BCLAF1	chr5:96632712-96633177	GM12878	blood:	n/a	n/a
4	BCLAF1	chr5:96691310-96691873	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:96691380-96691821	GM12878	blood:	n/a	n/a
6	BRCA1	chr5:96675145-96675188	GM12878	blood:	n/a	n/a
7	CBX3	chr5:96632687-96633278	HCT-116	colon:	n/a	n/a
8	CCNT2	chr5:96633727-96633849	K562	blood:	n/a	n/a
9	CCNT2	chr5:96691691-96691850	K562	blood:	n/a	n/a
10	CEBPB	chr5:96616438-96616570	IMR90	lung:	n/a	chr5:96616500-96616511
11	CEBPB	chr5:96616391-96616638	HepG2	liver:	n/a	chr5:96616500-96616511
12	CEBPB	chr5:96658376-96658678	IMR90	lung:	n/a	chr5:96658532-96658543
13	CEBPB	chr5:96658371-96658666	HepG2	liver:	n/a	chr5:96658532-96658543
14	CEBPB	chr5:96658415-96658662	A549	lung:	n/a	chr5:96658532-96658543
15	CHD1	chr5:96691326-96691347	GM12878	blood:	n/a	n/a
16	CHD2	chr5:96633012-96633158	HepG2	liver:	n/a	n/a
17	CHD2	chr5:96691511-96691972	GM12878	blood:	n/a	n/a
18	CREB1	chr5:96632777-96633147	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:96632884-96633083	GM12891	blood:	n/a	n/a
20	CTCF	chr5:96691380-96691530	GM12878	blood:	n/a	n/a
21	CTCF	chr5:96632842-96633094	K562	blood:	n/a	n/a
22	CTCF	chr5:96632640-96633368	HCT-116	colon:	n/a	n/a
23	CTCF	chr5:96632880-96633030	AG09319	gingival:	n/a	n/a
24	CTCF	chr5:96691320-96691470	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:96692629-96692744	LNCaP	prostate:	n/a	n/a
26	CTCF	chr5:96632960-96633110	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr5:96692634-96692770	LNCaP	prostate:	n/a	n/a
28	CTCF	chr5:96633325-96633347	GM12892	blood:	n/a	n/a
29	CTCF	chr5:96633170-96633182	GM12891	blood:	n/a	n/a
30	CTCF	chr5:96691346-96691369	NHEK	skin:	n/a	n/a
31	CTCF	chr5:96632920-96633070	HEK293	kidney:	n/a	n/a
32	CTCF	chr5:96691260-96691410	GM12865	blood:	n/a	n/a
33	CTCF	chr5:96632960-96633110	HCT-116	colon:	n/a	n/a
34	CTCF	chr5:96632801-96633156	LNCaP	prostate:	n/a	n/a
35	CTCF	chr5:96632980-96633130	GM12873	blood:	n/a	n/a
36	CTCF	chr5:96632820-96633148	Medullo	brain:	n/a	n/a
37	CTCF	chr5:96632880-96633030	SAEC	small airway:	n/a	n/a
38	CTCF	chr5:96632875-96633095	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:96641965-96641984	LNCaP	prostate:	n/a	n/a
40	CTCF	chr5:96632940-96633090	GM12874	blood:	n/a	n/a
41	CTCF	chr5:96633120-96633270	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr5:96632900-96633050	GM12868	blood:	n/a	n/a
43	CTCF	chr5:96632843-96633133	GM19240	blood:	n/a	n/a
44	CTCF	chr5:96665077-96665134	GM13977	blood:	n/a	n/a
45	CTCF	chr5:96632839-96633094	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr5:96633163-96633166	GM12891	blood:	n/a	n/a
47	CTCF	chr5:96693780-96693930	HepG2	liver:	n/a	n/a
48	CTCF	chr5:96691280-96691430	GM12865	blood:	n/a	n/a
49	CTCF	chr5:96632920-96633070	HL-60	blood:	n/a	n/a
50	CTCF	chr5:96632653-96633223	SK-N-SH	brain:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96697302..96697824-chr5:146587593..146588113,2	Hela-S3	cervix:
2	chr17:41398650..41400853-chr5:96695801..96698804,5	K562	blood:
3	chr17:41398860..41401971-chr5:96695801..96698802,6	K562	blood:
4	chr17:41463734..41465366-chr5:96695802..96697324,2	MCF-7	breast:
5	chr17:41380182..41383606-chr5:96695801..96698822,3	K562	blood:
6	chr5:96695823..96698804-chr6:142366314..142367822,2	K562	blood:
7	chr17:41380182..41383629-chr5:96695802..96698822,5	K562	blood:
8	chr5:96566532..96567370-chr5:96632847..96633430,3	MCF-7	breast:
9	chr3:73159507..73161444-chr5:96697302..96698824,2	K562	blood:
10	chr5:96687334..96689961-chr5:96691050..96693898,2	MCF-7	breast:
11	chr5:96656999..96658653-chr5:96658674..96662108,3	K562	blood:
12	chr17:41398605..41400432-chr5:96695803..96698802,4	MCF-7	breast:
13	chr17:41380186..41382311-chr5:96695804..96697321,3	MCF-7	breast:
14	chr5:96632479..96633406-chr5:96869339..96870359,6	MCF-7	breast:
15	chr5:96656999..96658653-chr5:96658674..96662108,3	K562	blood:
16	chr17:41462273..41467084-chr5:96695804..96698803,5	K562	blood:
17	chr17:41464548..41466257-chr5:96697324..96698824,2	MCF-7	breast:
18	chr5:96632616..96633407-chr5:96869853..96870506,3	MCF-7	breast:
19	chr5:96687334..96689961-chr5:96691050..96693898,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-5	chr5:96704480-96706125	NONHSAT102928

No data

Variant related genes	Relation type
ENSG00000249761	TF binding region
YTHDF1P1	TF binding region
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000223247	chromatin interactions

Extended variants
information (count: 1271 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2548426	chr5:96612401-96612402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2643567	chr5:96612455-96612456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187442511	chr5:96612462-96612463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192995378	chr5:96612471-96612472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557824659	chr5:96612541-96612542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116663487	chr5:96612542-96612543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139607175	chr5:96612567-96612568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372892379	chr5:96612597-96612598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574089559	chr5:96612654-96612655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61685285	chr5:96612656-96612657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541709033	chr5:96612671-96612672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560113697	chr5:96612709-96612710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533700435	chr5:96612731-96612732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2548427	chr5:96612732-96612733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538676722	chr5:96612746-96612747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563949174	chr5:96612766-96612767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185647104	chr5:96612786-96612787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543140728	chr5:96632806-96632807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561102082	chr5:96632816-96632817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs721801	chr5:96632830-96632831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546602716	chr5:96632847-96632848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186587099	chr5:96632881-96632882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1609326	chr5:96632891-96632892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571166640	chr5:96632904-96632905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1852739	chr5:96632947-96632948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536728191	chr5:96632948-96632949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34356111	chr5:96632951-96632952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570410855	chr5:96632993-96632994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529502372	chr5:96632994-96632995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534559100	chr5:96633001-96633002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553007719	chr5:96633021-96633022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183642831	chr5:96633051-96633052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570197479	chr5:96633068-96633069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538964741	chr5:96633073-96633074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1609327	chr5:96633109-96633110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575422421	chr5:96633125-96633126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75462250	chr5:96633138-96633139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561011352	chr5:96633142-96633143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1581662	chr5:96633171-96633172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142162084	chr5:96633190-96633191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540232665	chr5:96633191-96633192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188352365	chr5:96633201-96633202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146576852	chr5:96633205-96633206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112760744	chr5:96633256-96633257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551286687	chr5:96633266-96633267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563062628	chr5:96633267-96633268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376201216	chr5:96633287-96633288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139095913	chr5:96633307-96633308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548507032	chr5:96633382-96633383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2643500	chr5:96633389-96633390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96612400-96612800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:96612400-96612800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:96632800-96633800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:96632800-96633800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:96633000-96633200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:96633000-96633800	Enhancers	NHDF-Ad	bronchial
7	chr5:96633200-96633800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:96633200-96636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:96633400-96633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:96633400-96633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:96636600-96637200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:96641200-96645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:96658400-96661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:96659600-96660400	Enhancers	NHDF-Ad	bronchial
15	chr5:96659600-96660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:96660200-96660600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:96666800-96667000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
18	chr5:96666800-96667000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:96671800-96672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:96672000-96672200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:96672200-96672400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:96675000-96675800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:96691000-96691200	Enhancers	GM12878-XiMat	blood
24	chr5:96691200-96691800	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:96691200-96692200	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:96692200-96695800	Active TSS	GM12878-XiMat	blood
27	chr5:96693400-96694000	Enhancers	NHEK	skin
28	chr5:96693800-96694000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:96698200-96699000	Enhancers	Fetal Lung	lung
30	chr5:96698400-96699400	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:96699000-96699400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:96699000-96700600	Weak transcription	Fetal Lung	lung
33	chr5:96699200-96699800	Enhancers	GM12878-XiMat	blood
34	chr5:96699400-96699600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:96699400-96699600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:96699400-96699600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:96699400-96699800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:96699400-96699800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:96699400-96700000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:96699400-96702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:96699600-96699800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:96699600-96699800	Enhancers	Ovary	ovary
43	chr5:96699600-96700200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:96699600-96700600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:96699600-96701000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:96699600-96703200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:96699800-96701000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:96699800-96701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:96699800-96701000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:96700000-96701000	Weak transcription	Ovary	ovary

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