Variant report

Variant	esv3401398
Chromosome Location	chr5:96419846-96422344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:96420299-96420625	K562	blood:	n/a	n/a
2	CTCF	chr5:96421574-96421601	Lung_OC	lung:	n/a	n/a
3	NFYA	chr5:96420490-96420690	K562	blood:	n/a	chr5:96420557-96420575 chr5:96420581-96420599
4	NFYB	chr5:96420338-96420897	K562	blood:	n/a	n/a
5	NFYB	chr5:96420418-96420898	GM12878	blood:	n/a	n/a
6	SP1	chr5:96420299-96420798	K562	blood:	n/a	n/a
7	SPI1	chr5:96421427-96421825	GM12878	blood:	n/a	n/a
8	SPI1	chr5:96421513-96421877	GM12878	blood:	n/a	n/a
9	SPI1	chr5:96421560-96421747	GM12878	blood:	n/a	n/a
10	SPI1	chr5:96421513-96421800	GM12891	blood:	n/a	n/a
11	SPI1	chr5:96421508-96421833	GM12891	blood:	n/a	n/a
12	YY1	chr5:96421487-96421819	GM12878	blood:	n/a	n/a
13	YY1	chr5:96421314-96421519	GM12878	blood:	n/a	n/a
14	ZNF143	chr5:96421333-96421396	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:96421037-96421087	ECC-1	luminal epithelium:	n/a
2	chr5:96421245-96421295	HCF	heart:	n/a
3	chr5:96421245-96421295	SK-N-MC	brain:	n/a
4	chr5:96421245-96421295	HRCEpiC	kidney:	n/a
5	chr5:96421245-96421295	PrEC	prostate:	n/a
6	chr5:96421037-96421087	SK-N-MC	brain:	n/a
7	chr5:96421245-96421295	NT2-D1	testis:	n/a
8	chr5:96421245-96421295	NB4	blood:	n/a
9	chr5:96421245-96421295	ProgFib	skin:	n/a
10	chr5:96421037-96421087	HRE	kidney:	n/a
11	chr5:96421037-96421087	HCT-116	colon:	n/a
12	chr5:96421245-96421295	SKMC	muscle:	n/a
13	chr5:96421245-96421295	Jurkat	blood:	n/a
14	chr5:96421245-96421295	AG10803	skin:	n/a
15	chr5:96421245-96421295	MCF-7	breast:	n/a
16	chr5:96421037-96421087	CMK	blood:	n/a
17	chr5:96421037-96421087	AG04450	lung:	fetal
18	chr5:96421245-96421295	HAEpiC	amniotic membrane:	n/a
19	chr5:96421037-96421087	BE2_C	brain:	n/a
20	chr5:96421245-96421295	AG09309	skin:	n/a
21	chr5:96421245-96421295	HEEpiC	esophagus:	n/a
22	chr5:96421037-96421087	MCF10A-Er-Src	breast:	n/a
23	chr5:96421245-96421295	NH-A	brain:	n/a
24	chr5:96421245-96421295	HIPEpiC	eye:	n/a
25	chr5:96421037-96421087	HCF	heart:	n/a
26	chr5:96421245-96421295	NHBE	bronchial:	n/a
27	chr5:96421245-96421295	Hepatocyte	liver:	n/a
28	chr5:96421245-96421295	Caco-2	colon:	n/a
29	chr5:96421037-96421087	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:96421245-96421295	RPTEC	kidney:	n/a
31	chr5:96421245-96421295	AG04449	skin:	fetal
32	chr5:96421245-96421295	SK-N-SH_RA	brain:	n/a
33	chr5:96421037-96421087	ProgFib	skin:	n/a
34	chr5:96421245-96421295	T-47D	breast:	n/a
35	chr5:96421037-96421087	HRPEpiC	eye:	n/a
36	chr5:96421037-96421087	T-47D	breast:	n/a
37	chr5:96421245-96421295	HMEC	breast:	n/a
38	chr5:96421245-96421295	HEK293	kidney:	embryo
39	chr5:96421245-96421295	NHDF-neo	bronchial:	n/a
40	chr5:96421245-96421295	U87	brain:	n/a
41	chr5:96421037-96421087	H1-hESC	embryonic stem cell:	embryo
42	chr5:96421245-96421295	GM12891	blood:	n/a
43	chr5:96421037-96421087	PANC-1	pancreas:	n/a
44	chr5:96421037-96421087	GM12891	blood:	n/a
45	chr5:96421037-96421087	HCM	heart:	n/a
46	chr5:96421037-96421087	PrEC	prostate:	n/a
47	chr5:96421037-96421087	Jurkat	blood:	n/a
48	chr5:96421037-96421087	HIPEpiC	eye:	n/a
49	chr5:96421037-96421087	A549	lung:	n/a
50	chr5:96421037-96421087	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96419619..96421604-chr5:96424040..96426656,2	K562	blood:
2	chr5:96422091..96424070-chr5:96427925..96429531,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251606	TF binding region
ENSG00000251606	CpG island
ENSG00000251606	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77032099	chr5:96419862-96419863	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539982863	chr5:96419865-96419866	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376484889	chr5:96419873-96419874	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558071363	chr5:96419878-96419879	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116208374	chr5:96419880-96419881	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114913988	chr5:96419882-96419883	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377326107	chr5:96419905-96419906	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555873045	chr5:96419911-96419912	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574071583	chr5:96419939-96419940	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116614402	chr5:96420023-96420024	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147756037	chr5:96420042-96420043	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572256847	chr5:96420069-96420070	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182256655	chr5:96420122-96420123	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149207316	chr5:96420135-96420136	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543035149	chr5:96420138-96420139	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143342966	chr5:96420160-96420161	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75425473	chr5:96420174-96420175	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562187271	chr5:96420181-96420182	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35791372	chr5:96420188-96420189	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557491014	chr5:96420194-96420195	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567806272	chr5:96420205-96420206	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114739473	chr5:96420229-96420230	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148343266	chr5:96420235-96420236	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111844441	chr5:96420238-96420239	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533454733	chr5:96420254-96420255	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552092299	chr5:96420255-96420256	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569897926	chr5:96420258-96420259	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140784782	chr5:96420259-96420260	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555809770	chr5:96420275-96420276	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144706610	chr5:96420299-96420300	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535386681	chr5:96420311-96420312	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10059209	chr5:96420322-96420323	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114668143	chr5:96420331-96420332	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560625946	chr5:96420336-96420337	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545765973	chr5:96420353-96420354	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138572488	chr5:96420369-96420370	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576278125	chr5:96420376-96420377	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35343902	chr5:96420400-96420401	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141577223	chr5:96420407-96420408	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562124144	chr5:96420408-96420409	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529373255	chr5:96420456-96420457	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544965443	chr5:96420461-96420462	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541559985	chr5:96420467-96420468	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186629377	chr5:96420474-96420475	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146179074	chr5:96420480-96420481	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551635152	chr5:96420481-96420482	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563658659	chr5:96420482-96420483	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530972511	chr5:96420500-96420501	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531530840	chr5:96420522-96420523	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549173022	chr5:96420539-96420540	Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 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	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96414600-96421400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:96415400-96422800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:96419000-96421000	Strong transcription	Primary B cells from peripheral blood	blood
4	chr5:96419600-96420800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:96419800-96420600	Strong transcription	Primary B cells from cord blood	blood
6	chr5:96420600-96421000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:96420800-96421400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:96420800-96421400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:96420800-96421800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr5:96420800-96421800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:96420800-96423200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:96421000-96421200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:96421000-96421600	Enhancers	Primary B cells from cord blood	blood
14	chr5:96421200-96421400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:96421200-96422200	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:96421400-96421800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:96421400-96421800	Enhancers	GM12878-XiMat	blood
18	chr5:96421400-96423000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:96421600-96421800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr5:96421800-96422400	Enhancers	Primary B cells from cord blood	blood
21	chr5:96421800-96424800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:96421800-96425000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:96422200-96422400	Enhancers	GM12878-XiMat	blood
24	chr5:96422200-96422600	Weak transcription	Primary B cells from peripheral blood	blood

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