Variant report

Variant	rs73852895
Chromosome Location	chr4:147559306-147559307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr4:147559162-147562308	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr4:147558992-147560802	H1-hESC	embryonic stem cell:	n/a	chr4:147559810-147559821 chr4:147560197-147560206
4	SUZ12	chr4:147558808-147559721	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:147558997-147559633	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000264323	TF binding region
POU4F2	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs28397039	1.00[EUR][1000 genomes]
rs28694531	1.00[EUR][1000 genomes]
rs55789811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56925901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56939845	1.00[EUR][1000 genomes]
rs59895059	1.00[EUR][1000 genomes]
rs6825623	1.00[EUR][1000 genomes]
rs6830203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6843989	1.00[EUR][1000 genomes]
rs6857438	1.00[EUR][1000 genomes]
rs73852704	1.00[EUR][1000 genomes]
rs73852707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852869	1.00[EUR][1000 genomes]
rs73852883	1.00[EUR][1000 genomes]
rs73852898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73855650	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822768	chr4:147556986-147562654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147558000-147559400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea
4	chr4:147558200-147560600	Bivalent/Poised TSS	NH-A	brain
5	chr4:147558200-147561200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:147558200-147561800	Bivalent Enhancer	Lung	lung
7	chr4:147558200-147562200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr4:147558400-147559400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:147558400-147559800	Bivalent Enhancer	HUVEC	blood vessel
10	chr4:147558400-147560600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:147558400-147561000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr4:147558600-147559400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:147558600-147559600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:147558600-147559600	Weak transcription	Gastric	stomach
15	chr4:147558800-147559400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:147558800-147559800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
17	chr4:147558800-147559800	Bivalent/Poised TSS	NHEK	skin
18	chr4:147558800-147560200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr4:147558800-147561000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:147558800-147561000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr4:147558800-147561800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr4:147559000-147559400	Bivalent Enhancer	Right Ventricle	heart
23	chr4:147559000-147559600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr4:147559000-147559800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:147559000-147560000	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr4:147559000-147560400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr4:147559000-147560600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr4:147559000-147560600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:147559000-147560600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:147559000-147560600	Bivalent Enhancer	Esophagus	oesophagus
31	chr4:147559000-147560800	Bivalent Enhancer	Liver	Liver
32	chr4:147559000-147561000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:147559000-147562200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr4:147559200-147559400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:147559200-147559400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:147559200-147559400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr4:147559200-147559400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
38	chr4:147559200-147559400	Active TSS	Right Atrium	heart
39	chr4:147559200-147559600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:147559200-147559600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:147559200-147559600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:147559200-147559600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:147559200-147559600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr4:147559200-147559600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr4:147559200-147559600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
46	chr4:147559200-147559600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr4:147559200-147559600	Bivalent Enhancer	Fetal Heart	heart
48	chr4:147559200-147559600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr4:147559200-147559800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:147559200-147559800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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