Variant report

Variant	esv8241
Chromosome Location	chr16:71753503-71755861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71755733-71755783	PFSK-1	brain:	n/a
2	chr16:71755733-71755783	HPAEpiC	pulmonary alveolar:	n/a
3	chr16:71755733-71755783	HCF	heart:	n/a
4	chr16:71755733-71755783	NHDF-neo	bronchial:	n/a
5	chr16:71755733-71755783	HL-60	blood:	n/a
6	chr16:71755733-71755783	HRCEpiC	kidney:	n/a
7	chr16:71755733-71755783	U87	brain:	n/a
8	chr16:71755733-71755783	AG04450	lung:	fetal
9	chr16:71755733-71755783	ovcar-3	ovarian:	n/a
10	chr16:71755733-71755783	HMEC	breast:	n/a
11	chr16:71755733-71755783	Jurkat	blood:	n/a
12	chr16:71755733-71755783	LNCaP	prostate:	n/a
13	chr16:71755733-71755783	HRE	kidney:	n/a
14	chr16:71755733-71755783	HEK293	kidney:	embryo
15	chr16:71755733-71755783	CMK	blood:	n/a
16	chr16:71755733-71755783	NH-A	brain:	n/a
17	chr16:71755733-71755783	HUVEC	blood vessel:	n/a
18	chr16:71755733-71755783	MCF-7	breast:	n/a
19	chr16:71755733-71755783	HIPEpiC	eye:	n/a
20	chr16:71755733-71755783	HepG2	liver:	n/a
21	chr16:71755733-71755783	SK-N-MC	brain:	n/a
22	chr16:71755733-71755783	NT2-D1	testis:	n/a
23	chr16:71755733-71755783	PANC-1	pancreas:	n/a
24	chr16:71755733-71755783	SKMC	muscle:	n/a
25	chr16:71755733-71755783	Hepatocyte	liver:	n/a
26	chr16:71755733-71755783	AG04449	skin:	fetal
27	chr16:71755733-71755783	AG09309	skin:	n/a
28	chr16:71755733-71755783	GM12878	blood:	n/a
29	chr16:71755733-71755783	PrEC	prostate:	n/a
30	chr16:71755733-71755783	ProgFib	skin:	n/a
31	chr16:71755733-71755783	GM19239	blood:	n/a
32	chr16:71755733-71755783	SK-N-SH_RA	brain:	n/a
33	chr16:71755733-71755783	T-47D	breast:	n/a
34	chr16:71755733-71755783	HNPCEpiC	eye:	n/a
35	chr16:71755733-71755783	A549	lung:	n/a
36	chr16:71755733-71755783	GM06990	blood:	n/a
37	chr16:71755733-71755783	HCM	heart:	n/a
38	chr16:71755733-71755783	NHBE	bronchial:	n/a
39	chr16:71755733-71755783	SAEC	small airway:	n/a
40	chr16:71755733-71755783	Hela-S3	cervix:	n/a
41	chr16:71755733-71755783	HEEpiC	esophagus:	n/a
42	chr16:71755733-71755783	SK-N-SH	brain:	n/a
43	chr16:71755733-71755783	HAEpiC	amniotic membrane:	n/a
44	chr16:71755733-71755783	NB4	blood:	n/a
45	chr16:71755733-71755783	HCT-116	colon:	n/a
46	chr16:71755733-71755783	AoSMC	blood vessel:	n/a
47	chr16:71755733-71755783	MCF10A-Er-Src	breast:	n/a
48	chr16:71755733-71755783	BJ	skin:	n/a
49	chr16:71755733-71755783	HCPEpiC	choroid plexus:	n/a
50	chr16:71755733-71755783	AG10803	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:11967125..11969776-chr16:71755847..71757507,2	MCF-7	breast:
2	chr16:71751172..71753606-chr16:71759240..71760953,2	K562	blood:
3	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
4	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
5	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
6	chr16:71751015..71755909-chr16:71755952..71758185,6	K562	blood:
7	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261513	CpG island
PHLPP2	CpG island
ENSG00000224470	chromatin interactions
ENSG00000260612	chromatin interactions
ENSG00000182149	chromatin interactions
ENSG00000261513	chromatin interactions
ENSG00000260593	chromatin interactions
ENSG00000102984	chromatin interactions
ENSG00000140832	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000040199	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76516276	chr16:71753511-71753512	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556619385	chr16:71753512-71753513	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575032110	chr16:71753513-71753514	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542233696	chr16:71753515-71753516	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77598526	chr16:71753518-71753519	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs72801727	chr16:71753529-71753530	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs78569053	chr16:71753541-71753542	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536962385	chr16:71753549-71753550	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs148928067	chr16:71753554-71753555	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs143677624	chr16:71753576-71753577	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527584261	chr16:71753616-71753617	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377016312	chr16:71753617-71753618	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564484452	chr16:71753753-71753754	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186766902	chr16:71753764-71753765	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369489379	chr16:71753777-71753778	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372399956	chr16:71753788-71753789	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191597519	chr16:71753791-71753792	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377177545	chr16:71753841-71753842	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565755640	chr16:71753852-71753853	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528988083	chr16:71753855-71753856	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146549354	chr16:71753859-71753860	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370935884	chr16:71753868-71753869	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369250365	chr16:71753892-71753893	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371701642	chr16:71753893-71753894	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12926377	chr16:71753894-71753895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141284020	chr16:71753897-71753898	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377414387	chr16:71753945-71753946	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539319987	chr16:71753973-71753974	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551658939	chr16:71754018-71754019	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112175548	chr16:71754040-71754041	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12927478	chr16:71754047-71754048	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12926660	chr16:71754058-71754059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12926662	chr16:71754060-71754061	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12927490	chr16:71754075-71754076	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12927497	chr16:71754090-71754091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12927637	chr16:71754109-71754110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543041996	chr16:71754144-71754145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555311056	chr16:71754275-71754276	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574967199	chr16:71754320-71754321	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372540680	chr16:71754355-71754356	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554503192	chr16:71754476-71754477	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554176908	chr16:71754490-71754491	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572485778	chr16:71754505-71754506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113721910	chr16:71754512-71754513	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564799826	chr16:71754613-71754614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201767633	chr16:71754632-71754633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188886220	chr16:71754643-71754644	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs193112347	chr16:71754654-71754655	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs8063535	chr16:71754711-71754712	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528927626	chr16:71754713-71754714	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:71705000-71756800	Weak transcription	Gastric	stomach
6	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:71710600-71756800	Weak transcription	Lung	lung
9	chr16:71711200-71756400	Weak transcription	K562	blood
10	chr16:71715800-71756000	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:71724400-71756000	Weak transcription	Dnd41	blood
13	chr16:71724400-71756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:71724600-71756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:71724800-71756000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:71725000-71756000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:71725000-71756600	Weak transcription	Left Ventricle	heart
18	chr16:71733400-71756600	Weak transcription	Aorta	Aorta
19	chr16:71733800-71756000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:71734000-71756400	Weak transcription	Liver	Liver
21	chr16:71734000-71756600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:71734000-71756600	Weak transcription	Thymus	Thymus
23	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
24	chr16:71734200-71756200	Weak transcription	Fetal Lung	lung
25	chr16:71735000-71755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:71736000-71756400	Weak transcription	Brain Substantia Nigra	brain
27	chr16:71736600-71756000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:71741600-71756800	Weak transcription	Small Intestine	intestine
29	chr16:71741800-71756600	Weak transcription	Psoas Muscle	Psoas
30	chr16:71742000-71755800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:71742000-71756000	Weak transcription	Primary B cells from cord blood	blood
32	chr16:71742000-71756000	Weak transcription	Fetal Brain Female	brain
33	chr16:71742000-71756000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:71742000-71756200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:71742000-71756400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:71742000-71756600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:71742000-71756800	Weak transcription	Spleen	Spleen
38	chr16:71742400-71756000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:71742400-71756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:71743600-71756400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:71743800-71756200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:71743800-71756200	Weak transcription	NH-A	brain
43	chr16:71744000-71756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:71744000-71756000	Weak transcription	Ovary	ovary
45	chr16:71744200-71755400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:71744200-71756000	Weak transcription	Colonic Mucosa	Colon
47	chr16:71744200-71756000	Weak transcription	NHEK	skin
48	chr16:71744200-71756200	Weak transcription	HSMM	muscle
49	chr16:71744200-71756200	Weak transcription	HUVEC	blood vessel
50	chr16:71744200-71756400	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links