Variant report

Variant	nsv103185
Chromosome Location	chr16:77249657-77252475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr16:77250699-77250985	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr16:77250815-77250898	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr16:77250784-77250984	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr16:77250004-77250160	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:77249973-77250023	HCPEpiC	choroid plexus:	n/a
2	chr16:77249973-77250023	HCF	heart:	n/a
3	chr16:77249973-77250023	NB4	blood:	n/a
4	chr16:77249973-77250023	HMEC	breast:	n/a
5	chr16:77249973-77250023	HRCEpiC	kidney:	n/a
6	chr16:77249973-77250023	AG04449	skin:	fetal
7	chr16:77249973-77250023	SK-N-SH	brain:	n/a
8	chr16:77249973-77250023	GM12878	blood:	n/a
9	chr16:77249973-77250023	Caco-2	colon:	n/a
10	chr16:77249973-77250023	PANC-1	pancreas:	n/a
11	chr16:77249973-77250023	Hela-S3	cervix:	n/a
12	chr16:77249973-77250023	SKMC	muscle:	n/a
13	chr16:77249973-77250023	NT2-D1	testis:	n/a
14	chr16:77249973-77250023	HEEpiC	esophagus:	n/a
15	chr16:77249973-77250023	NHDF-neo	bronchial:	n/a
16	chr16:77249973-77250023	ProgFib	skin:	n/a
17	chr16:77249973-77250023	HPAEpiC	pulmonary alveolar:	n/a
18	chr16:77249973-77250023	NHBE	bronchial:	n/a
19	chr16:77249973-77250023	IMR90	lung:	fetal
20	chr16:77249973-77250023	GM06990	blood:	n/a
21	chr16:77249973-77250023	HCT-116	colon:	n/a
22	chr16:77249973-77250023	H1-hESC	embryonic stem cell:	embryo
23	chr16:77249973-77250023	BE2_C	brain:	n/a
24	chr16:77249973-77250023	HAEpiC	amniotic membrane:	n/a
25	chr16:77249973-77250023	BJ	skin:	n/a
26	chr16:77249973-77250023	K562	blood:	n/a
27	chr16:77249973-77250023	AG10803	skin:	n/a
28	chr16:77249973-77250023	A549	lung:	n/a
29	chr16:77249973-77250023	HUVEC	blood vessel:	n/a
30	chr16:77249973-77250023	AG04450	lung:	fetal
31	chr16:77249973-77250023	SAEC	small airway:	n/a
32	chr16:77249973-77250023	ECC-1	luminal epithelium:	n/a
33	chr16:77249973-77250023	HCM	heart:	n/a
34	chr16:77249973-77250023	GM12891	blood:	n/a
35	chr16:77249973-77250023	HEK293	kidney:	embryo
36	chr16:77249973-77250023	AG09309	skin:	n/a
37	chr16:77249973-77250023	Hepatocyte	liver:	n/a
38	chr16:77249973-77250023	NH-A	brain:	n/a
39	chr16:77249973-77250023	LNCaP	prostate:	n/a
40	chr16:77249973-77250023	CMK	blood:	n/a
41	chr16:77249973-77250023	RPTEC	kidney:	n/a
42	chr16:77249973-77250023	GM12892	blood:	n/a
43	chr16:77249973-77250023	AG09319	gingival:	n/a
44	chr16:77249973-77250023	HL-60	blood:	n/a
45	chr16:77249973-77250023	ovcar-3	ovarian:	n/a
46	chr16:77249973-77250023	AoSMC	blood vessel:	n/a
47	chr16:77249973-77250023	PrEC	prostate:	n/a
48	chr16:77249973-77250023	MCF-7	breast:	n/a
49	chr16:77249973-77250023	U87	brain:	n/a
50	chr16:77249973-77250023	HIPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77240069..77243050-chr16:77247110..77249798,2	MCF-7	breast:
2	chr16:77232724..77235283-chr16:77249460..77251454,2	K562	blood:
3	chr16:77223216..77226884-chr16:77251990..77255920,6	MCF-7	breast:
4	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:
5	chr16:77251729..77253514-chr16:77255213..77256773,2	MCF-7	breast:

No data

Variant related genes	Relation type
VN2R10P	TF binding region
VN2R10P	CpG island
ENSG00000205078	chromatin interactions
ENSG00000103111	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532277260	chr16:77249692-77249693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557061649	chr16:77249708-77249709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377244478	chr16:77249709-77249710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62049597	chr16:77249742-77249743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567005213	chr16:77249759-77249760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11149973	chr16:77249784-77249785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35009015	chr16:77249828-77249829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558816779	chr16:77249836-77249837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574944299	chr16:77249841-77249842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565718144	chr16:77249854-77249855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139690637	chr16:77249881-77249882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554683522	chr16:77249886-77249887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113635594	chr16:77249915-77249916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4888609	chr16:77249919-77249920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540297403	chr16:77249935-77249936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146381402	chr16:77249940-77249941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189664063	chr16:77249973-77249974	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546165766	chr16:77249986-77249987	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182758097	chr16:77249997-77249998	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530962649	chr16:77250010-77250011	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550711796	chr16:77250028-77250029	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567620416	chr16:77250037-77250038	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534874540	chr16:77250053-77250054	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139718114	chr16:77250072-77250073	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs116758808	chr16:77250078-77250079	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11639911	chr16:77250095-77250096	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs573431999	chr16:77250101-77250102	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538846419	chr16:77250117-77250118	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114962421	chr16:77250152-77250153	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569195501	chr16:77250153-77250154	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538115525	chr16:77250183-77250184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554290028	chr16:77250187-77250188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144432166	chr16:77250221-77250222	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374902336	chr16:77250282-77250283	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539962029	chr16:77250287-77250288	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553827231	chr16:77250305-77250306	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577137921	chr16:77250314-77250315	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369535681	chr16:77250318-77250319	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562638486	chr16:77250337-77250338	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs8048285	chr16:77250399-77250400	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs542058076	chr16:77250419-77250420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536866854	chr16:77250491-77250492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538729324	chr16:77250529-77250530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79891434	chr16:77250545-77250546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
45	rs530098973	chr16:77250579-77250580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546828563	chr16:77250604-77250605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61032709	chr16:77250608-77250609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372434666	chr16:77250609-77250610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376460165	chr16:77250625-77250626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569081744	chr16:77250634-77250635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Colorectal cancer	22860045	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77247200-77250200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:77247200-77253600	Weak transcription	Fetal Lung	lung
3	chr16:77247400-77254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:77247600-77251000	Weak transcription	Fetal Stomach	stomach
5	chr16:77247600-77254400	Weak transcription	Ovary	ovary
6	chr16:77247600-77257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:77247800-77250800	Weak transcription	HSMMtube	muscle
8	chr16:77247800-77253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:77247800-77257400	Weak transcription	Esophagus	oesophagus
10	chr16:77247800-77261600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:77248400-77251200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:77248400-77253200	Weak transcription	Hela-S3	cervix
13	chr16:77248400-77256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:77248600-77250200	Enhancers	A549	lung
15	chr16:77248600-77253200	Weak transcription	NH-A	brain
16	chr16:77248800-77253200	Weak transcription	HUVEC	blood vessel
17	chr16:77248800-77254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:77248800-77256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:77248800-77257200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:77248800-77262000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr16:77250200-77250400	Flanking Active TSS	A549	lung
22	chr16:77250400-77251200	Enhancers	A549	lung
23	chr16:77251200-77251400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:77251200-77253000	Weak transcription	A549	lung
25	chr16:77251400-77251600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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