Variant report

Variant	rs16976863
Chromosome Location	chr19:44384292-44384293
allele	A/C
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:0)
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	chr19:44384270-44384320	HCF	heart:	n/a
2	chr19:44384270-44384320	PrEC	prostate:	n/a
3	chr19:44384270-44384320	NHBE	bronchial:	n/a
4	chr19:44384270-44384320	ovcar-3	ovarian:	n/a
5	chr19:44384270-44384320	SK-N-SH_RA	brain:	n/a
6	chr19:44384270-44384320	BE2_C	brain:	n/a
7	chr19:44384270-44384320	U87	brain:	n/a
8	chr19:44384270-44384320	CMK	blood:	n/a
9	chr19:44384270-44384320	Hepatocyte	liver:	n/a
10	chr19:44384270-44384320	HEK293	kidney:	embryo
11	chr19:44384270-44384320	HRCEpiC	kidney:	n/a
12	chr19:44384270-44384320	Jurkat	blood:	n/a
13	chr19:44384270-44384320	HCPEpiC	choroid plexus:	n/a
14	chr19:44384270-44384320	HMEC	breast:	n/a
15	chr19:44384270-44384320	GM12892	blood:	n/a
16	chr19:44384270-44384320	HIPEpiC	eye:	n/a
17	chr19:44384270-44384320	PFSK-1	brain:	n/a
18	chr19:44384270-44384320	HCT-116	colon:	n/a
19	chr19:44384270-44384320	HUVEC	blood vessel:	n/a
20	chr19:44384270-44384320	GM19239	blood:	n/a
21	chr19:44384270-44384320	LNCaP	prostate:	n/a
22	chr19:44384270-44384320	HNPCEpiC	eye:	n/a
23	chr19:44384270-44384320	NB4	blood:	n/a
24	chr19:44384270-44384320	SAEC	small airway:	n/a
25	chr19:44384270-44384320	GM06990	blood:	n/a
26	chr19:44384270-44384320	AG10803	skin:	n/a
27	chr19:44384270-44384320	PANC-1	pancreas:	n/a
28	chr19:44384270-44384320	MCF10A-Er-Src	breast:	n/a
29	chr19:44384270-44384320	IMR90	lung:	fetal
30	chr19:44384270-44384320	SK-N-SH	brain:	n/a
31	chr19:44384270-44384320	H1-hESC	embryonic stem cell:	embryo
32	chr19:44384270-44384320	AG04450	lung:	fetal
33	chr19:44384270-44384320	HRPEpiC	eye:	n/a
34	chr19:44384270-44384320	AG09309	skin:	n/a
35	chr19:44384270-44384320	HepG2	liver:	n/a
36	chr19:44384270-44384320	HRE	kidney:	n/a
37	chr19:44384270-44384320	A549	lung:	n/a
38	chr19:44384270-44384320	K562	blood:	n/a
39	chr19:44384270-44384320	BJ	skin:	n/a
40	chr19:44384270-44384320	HCM	heart:	n/a
41	chr19:44384270-44384320	SK-N-MC	brain:	n/a
42	chr19:44384270-44384320	MCF-7	breast:	n/a
43	chr19:44384270-44384320	HAEpiC	amniotic membrane:	n/a
44	chr19:44384270-44384320	Hela-S3	cervix:	n/a
45	chr19:44384270-44384320	AG09319	gingival:	n/a
46	chr19:44384270-44384320	ECC-1	luminal epithelium:	n/a
47	chr19:44384270-44384320	NHDF-neo	bronchial:	n/a
48	chr19:44384270-44384320	GM12891	blood:	n/a
49	chr19:44384270-44384320	RPTEC	kidney:	n/a
50	chr19:44384270-44384320	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
ZNF404	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1124737	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976889	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976897	0.82[YRI][hapmap]
rs17449078	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2191562	0.91[YRI][hapmap]
rs2191563	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs56870791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57500373	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59935787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60582855	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61022716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61277064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61528694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6509121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs766959	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8103693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8106317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv961294	chr19:44359970-44384503	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44382600-44384400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:44382600-44384400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
3	chr19:44382600-44385000	ZNF genes & repeats	HSMMtube	muscle
4	chr19:44382600-44385400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44382600-44385400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
6	chr19:44382600-44385600	ZNF genes & repeats	Fetal Lung	lung
7	chr19:44382600-44385600	ZNF genes & repeats	Ovary	ovary
8	chr19:44382600-44386000	ZNF genes & repeats	Brain Angular Gyrus	brain
9	chr19:44382600-44386400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:44382600-44386600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:44382600-44386600	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr19:44382600-44388600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:44382600-44389200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:44382600-44390400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:44382600-44390600	ZNF genes & repeats	Liver	Liver
16	chr19:44382600-44390800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:44382800-44384400	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:44382800-44385200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:44382800-44385200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:44382800-44385400	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr19:44383000-44385600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44383000-44405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:44383200-44387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:44383400-44384800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr19:44383600-44384600	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:44383600-44385000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
27	chr19:44383800-44385400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:44384000-44385400	ZNF genes & repeats	Right Ventricle	heart
29	chr19:44384000-44386000	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr19:44384200-44384800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:44384200-44385800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44384200-44386200	ZNF genes & repeats	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links