Variant report

Variant	nsv882442
Chromosome Location	chr5:99362737-99478428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:708)
CpG islands
(count:366)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:99379165-99379540	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99379244-99379565	GM12878	blood:	n/a	n/a
3	BACH1	chr5:99384887-99385260	K562	blood:	n/a	n/a
4	BATF	chr5:99382105-99382281	GM12878	blood:	n/a	n/a
5	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
6	BATF	chr5:99432046-99432361	GM12878	blood:	n/a	n/a
7	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
8	BATF	chr5:99388145-99388297	GM12878	blood:	n/a	n/a
9	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
10	BATF	chr5:99379238-99379445	GM12878	blood:	n/a	n/a
11	BATF	chr5:99379275-99379445	GM12878	blood:	n/a	n/a
12	BATF	chr5:99385000-99385307	GM12878	blood:	n/a	n/a
13	BATF	chr5:99388507-99388698	GM12878	blood:	n/a	n/a
14	BATF	chr5:99383118-99383547	GM12878	blood:	n/a	n/a
15	BATF	chr5:99384985-99385295	GM12878	blood:	n/a	n/a
16	BATF	chr5:99389499-99389705	GM12878	blood:	n/a	n/a
17	BATF	chr5:99389007-99389272	GM12878	blood:	n/a	n/a
18	BATF	chr5:99389889-99390099	GM12878	blood:	n/a	n/a
19	BATF	chr5:99388504-99388666	GM12878	blood:	n/a	n/a
20	BATF	chr5:99383113-99383549	GM12878	blood:	n/a	n/a
21	BATF	chr5:99389500-99389704	GM12878	blood:	n/a	n/a
22	BATF	chr5:99387907-99388092	GM12878	blood:	n/a	n/a
23	BATF	chr5:99432041-99432354	GM12878	blood:	n/a	n/a
24	BATF	chr5:99382104-99382381	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:99389955-99390140	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:99383124-99383473	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:99388377-99388810	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:99389488-99389768	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:99389507-99389698	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:99388493-99388759	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:99383106-99383811	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:99388153-99388292	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:99382065-99382284	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:99383178-99383545	H1-hESC	embryonic stem cell:	n/a	n/a
40	BCL11A	chr5:99432032-99432400	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:99387897-99388305	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:99388998-99389358	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:99387915-99388066	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:99384943-99385335	GM12878	blood:	n/a	n/a
46	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
47	BHLHE40	chr5:99382742-99383814	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:99388491-99388776	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:99387743-99388449	HepG2	liver:	n/a	n/a
50	BHLHE40	chr5:99389491-99389718	HepG2	liver:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99382140-99382190	Hepatocyte	liver:	n/a
2	chr5:99389821-99389871	MCF10A-Er-Src	breast:	n/a
3	chr5:99382144-99382194	AG09309	skin:	n/a
4	chr5:99382144-99382194	HRPEpiC	eye:	n/a
5	chr5:99389821-99389871	A549	lung:	n/a
6	chr5:99381964-99382014	AG09309	skin:	n/a
7	chr5:99381840-99381890	IMR90	lung:	fetal
8	chr5:99388688-99388738	GM06990	blood:	n/a
9	chr5:99389821-99389871	H1-hESC	embryonic stem cell:	embryo
10	chr5:99382144-99382194	BE2_C	brain:	n/a
11	chr5:99382140-99382190	NHDF-neo	bronchial:	n/a
12	chr5:99389821-99389871	AG04450	lung:	fetal
13	chr5:99382144-99382194	Hepatocyte	liver:	n/a
14	chr5:99382144-99382194	MCF-7	breast:	n/a
15	chr5:99389821-99389871	BJ	skin:	n/a
16	chr5:99382140-99382190	GM12892	blood:	n/a
17	chr5:99382144-99382194	IMR90	lung:	fetal
18	chr5:99382140-99382190	HCT-116	colon:	n/a
19	chr5:99389821-99389871	NHDF-neo	bronchial:	n/a
20	chr5:99381840-99381890	AG09319	gingival:	n/a
21	chr5:99381964-99382014	HAEpiC	amniotic membrane:	n/a
22	chr5:99382140-99382190	NB4	blood:	n/a
23	chr5:99389821-99389871	NB4	blood:	n/a
24	chr5:99382144-99382194	PANC-1	pancreas:	n/a
25	chr5:99388688-99388738	HUVEC	blood vessel:	n/a
26	chr5:99382144-99382194	BJ	skin:	n/a
27	chr5:99382144-99382194	AG10803	skin:	n/a
28	chr5:99382140-99382190	PrEC	prostate:	n/a
29	chr5:99388688-99388738	AG04449	skin:	fetal
30	chr5:99389821-99389871	AG10803	skin:	n/a
31	chr5:99382144-99382194	ovcar-3	ovarian:	n/a
32	chr5:99381964-99382014	GM12878	blood:	n/a
33	chr5:99382140-99382190	AG04450	lung:	fetal
34	chr5:99389821-99389871	BE2_C	brain:	n/a
35	chr5:99382140-99382190	ovcar-3	ovarian:	n/a
36	chr5:99382144-99382194	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:99382140-99382190	ECC-1	luminal epithelium:	n/a
38	chr5:99382140-99382190	BJ	skin:	n/a
39	chr5:99382144-99382194	SKMC	muscle:	n/a
40	chr5:99381964-99382014	HRPEpiC	eye:	n/a
41	chr5:99382144-99382194	Jurkat	blood:	n/a
42	chr5:99382144-99382194	CMK	blood:	n/a
43	chr5:99388688-99388738	Caco-2	colon:	n/a
44	chr5:99389821-99389871	IMR90	lung:	fetal
45	chr5:99389821-99389871	GM12878	blood:	n/a
46	chr5:99388688-99388738	IMR90	lung:	fetal
47	chr5:99381964-99382014	MCF10A-Er-Src	breast:	n/a
48	chr5:99382140-99382190	SK-N-MC	brain:	n/a
49	chr5:99388688-99388738	NHBE	bronchial:	n/a
50	chr5:99382144-99382194	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
2	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-4	chr5:99382154-99382674	NONHSAT102986
2	lnc-ST8SIA4-10	chr5:99386063-99386354	NONHSAT102989

No data

Variant related genes	Relation type
ENSG00000270230	TF binding region
ENSG00000271480	TF binding region
ENSG00000270225	TF binding region
ENSG00000270350	TF binding region
ENSG00000270388	TF binding region
MTATP6P2	TF binding region
MTND5P10	TF binding region
ENSG00000264839	TF binding region
ENSG00000270232	TF binding region
ENSG00000270906	TF binding region
ENSG00000271207	TF binding region
ENSG00000270230	CpG island
ENSG00000271480	CpG island
ENSG00000270225	CpG island
ENSG00000270350	CpG island
ENSG00000270388	CpG island
MTATP6P2	CpG island
MTND5P10	CpG island
ENSG00000264839	CpG island
ENSG00000270232	CpG island
ENSG00000270906	CpG island
ENSG00000271207	CpG island

Extended variants
information (count: 1065 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1477642	chr5:99362737-99362738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559911775	chr5:99362814-99362815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530211098	chr5:99362816-99362817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540841239	chr5:99362825-99362826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545597819	chr5:99362842-99362843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563700661	chr5:99362847-99362848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531238304	chr5:99362930-99362931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549370075	chr5:99362994-99362995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554122408	chr5:99363008-99363009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145264591	chr5:99363067-99363068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567946312	chr5:99363069-99363070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373303239	chr5:99363072-99363073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189288680	chr5:99363078-99363079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181917736	chr5:99363098-99363099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571026923	chr5:99363136-99363137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137897180	chr5:99363140-99363141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369234676	chr5:99363143-99363144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557123488	chr5:99363179-99363180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187385949	chr5:99363228-99363229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536439280	chr5:99363310-99363311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142447257	chr5:99363328-99363329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191776827	chr5:99363354-99363355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535051615	chr5:99363453-99363454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183554871	chr5:99363507-99363508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548409329	chr5:99363566-99363567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79373128	chr5:99363650-99363651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73774526	chr5:99363695-99363696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563916467	chr5:99363718-99363719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575788221	chr5:99363725-99363726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13436493	chr5:99363860-99363861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552598749	chr5:99363911-99363912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561280850	chr5:99363922-99363923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528727531	chr5:99363972-99363973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368014103	chr5:99363991-99363992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533024206	chr5:99363994-99363995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539470314	chr5:99374836-99374837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370648948	chr5:99374961-99374962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558135685	chr5:99375017-99375018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181009797	chr5:99375048-99375049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149002785	chr5:99375127-99375128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562158590	chr5:99375182-99375183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186348868	chr5:99375183-99375184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73774541	chr5:99375192-99375193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559812446	chr5:99375211-99375212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191092313	chr5:99375254-99375255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551096077	chr5:99375258-99375259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562906714	chr5:99375286-99375287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530416059	chr5:99375299-99375300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548716134	chr5:99375333-99375334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567001907	chr5:99375369-99375370	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99360200-99363600	Weak transcription	Fetal Lung	lung
2	chr5:99363600-99364000	Enhancers	Fetal Lung	lung
3	chr5:99374800-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:99375000-99376200	Enhancers	Brain Germinal Matrix	brain
5	chr5:99375400-99375800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:99375400-99375800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:99378400-99379000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:99378400-99379200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:99416400-99417200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:99458200-99458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:99458400-99458800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:99458400-99458800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:99458400-99459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:99458600-99459000	Enhancers	Fetal Brain Male	brain
15	chr5:99458800-99459000	Enhancers	Fetal Lung	lung
16	chr5:99459000-99459800	Weak transcription	Fetal Lung	lung
17	chr5:99459000-99460800	Weak transcription	Fetal Brain Male	brain
18	chr5:99459800-99461400	Enhancers	Fetal Lung	lung
19	chr5:99460800-99461400	Enhancers	Fetal Brain Male	brain
20	chr5:99461200-99461400	Enhancers	Fetal Kidney	kidney
21	chr5:99461400-99464000	Weak transcription	Fetal Kidney	kidney
22	chr5:99464000-99464200	Enhancers	Fetal Kidney	kidney
23	chr5:99464200-99465000	Weak transcription	Fetal Kidney	kidney
24	chr5:99465000-99466000	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links