Variant report

Variant	rs16972862
Chromosome Location	chr19:39371122-39371123
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr19:39371066-39371405	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr19:39371003-39371136	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39341787..39344352-chr19:39369532..39371797,3	MCF-7	breast:
2	chr19:39365356..39367553-chr19:39371067..39373551,2	K562	blood:
3	chr19:39360853..39363331-chr19:39369280..39371226,2	MCF-7	breast:
4	chr19:39337933..39340213-chr19:39370385..39371920,2	K562	blood:
5	chr19:39370268..39372714-chr19:39419858..39422598,3	K562	blood:
6	chr19:39339112..39343595-chr19:39368855..39373078,6	MCF-7	breast:

No data

Variant related genes	Relation type
RINL	TF binding region
SIRT2	TF binding region
ENSG00000128626	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000187994	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10405371	1.00[ASN][1000 genomes]
rs10405685	0.83[AFR][1000 genomes]
rs10417695	1.00[ASN][1000 genomes]
rs13346505	0.81[AFR][1000 genomes]
rs28391081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45592833	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57403354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57981781	1.00[ASN][1000 genomes]
rs58188607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39360800-39371400	Weak transcription	NHLF	lung
2	chr19:39360800-39379200	Weak transcription	NHDF-Ad	bronchial
3	chr19:39361000-39379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:39361000-39380200	Weak transcription	Psoas Muscle	Psoas
5	chr19:39361200-39371200	Weak transcription	Liver	Liver
6	chr19:39361200-39376800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:39365400-39379400	Weak transcription	Osteobl	bone
8	chr19:39367400-39371400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:39368000-39374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:39368600-39373400	Weak transcription	Fetal Brain Male	brain
11	chr19:39368800-39376600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:39368800-39378200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr19:39368800-39386400	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr19:39369000-39374600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:39369000-39379200	Weak transcription	HMEC	breast
16	chr19:39369000-39384000	Weak transcription	Right Atrium	heart
17	chr19:39369000-39386400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:39369200-39371200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:39369200-39373200	Strong transcription	Brain Hippocampus Middle	brain
20	chr19:39369200-39374600	Strong transcription	Brain Germinal Matrix	brain
21	chr19:39369200-39376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:39369200-39377800	Weak transcription	Fetal Lung	lung
23	chr19:39369200-39382800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:39369200-39389200	Weak transcription	A549	lung
25	chr19:39369400-39371200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:39369400-39371200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:39369400-39371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:39369400-39371600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:39369400-39372400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:39369400-39374400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:39369400-39374600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:39369400-39375200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:39369400-39376000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:39369400-39379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:39369400-39382800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:39369400-39388800	Weak transcription	Stomach Mucosa	stomach
37	chr19:39369600-39371200	Weak transcription	Colonic Mucosa	Colon
38	chr19:39369600-39371400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:39369600-39371600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:39369600-39372200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:39369600-39373400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr19:39369600-39373600	Strong transcription	Right Ventricle	heart
43	chr19:39369600-39374600	Strong transcription	Brain Anterior Caudate	brain
44	chr19:39369600-39374600	Strong transcription	Fetal Brain Female	brain
45	chr19:39369600-39374600	Strong transcription	Lung	lung
46	chr19:39369600-39378600	Weak transcription	HUVEC	blood vessel
47	chr19:39369600-39379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:39369800-39371200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:39369800-39371200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:39369800-39371200	Enhancers	Primary T cells fromperipheralblood	blood

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