Variant report

Variant	rs3792624
Chromosome Location	chr4:48111418-48111419
allele	A/G
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	CTCF	chr4:48111252-48112233	A549	lung:	n/a	chr4:48111871-48111892 chr4:48111867-48111885 chr4:48111869-48111882 chr4:48111869-48111887 chr4:48111873-48111882 chr4:48111862-48111883 chr4:48111868-48111884 chr4:48111870-48111880
2	CTCF	chr4:48111381-48112202	SK-N-SH	brain:	n/a	chr4:48111871-48111892 chr4:48111867-48111885 chr4:48111869-48111882 chr4:48111869-48111887 chr4:48111873-48111882 chr4:48111862-48111883 chr4:48111868-48111884 chr4:48111870-48111880
3	GATA2	chr4:48111373-48111878	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr4:48111371-48113231	SK-N-SH	brain:	n/a	chr4:48112406-48112422 chr4:48112897-48112904

Variant related genes	Relation type
RNU6-838P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10007288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13118073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13123671	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13133062	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13148174	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1567218	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17674224	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs34059656	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35067106	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35201668	0.85[AMR][1000 genomes]
rs35494193	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35590286	0.88[ASN][1000 genomes]
rs4589663	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs55718430	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60251898	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67723804	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6825925	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844940	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850108	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7654844	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7658300	0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7679010	1.00[CEU][hapmap];1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:48109400-48111600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48109400-48111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:48109600-48113600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:48109600-48114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:48109800-48115000	Strong transcription	Primary T cells from cord blood	blood
13	chr4:48110000-48111600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:48110200-48111800	Enhancers	Liver	Liver
15	chr4:48110200-48114000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:48110400-48111600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:48110400-48111800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:48110800-48111600	Enhancers	HMEC	breast
19	chr4:48110800-48111800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:48110800-48111800	Enhancers	Stomach Mucosa	stomach
21	chr4:48110800-48111800	Enhancers	NHEK	skin
22	chr4:48111200-48111800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:48111200-48111800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:48111200-48111800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:48111400-48111600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:48111400-48111600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:48111400-48111600	Enhancers	NH-A	brain
28	chr4:48111400-48111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:48111400-48111800	Enhancers	Hela-S3	cervix
30	chr4:48111400-48111800	Enhancers	HSMM	muscle
31	chr4:48111400-48111800	Enhancers	NHDF-Ad	bronchial
32	chr4:48111400-48112200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:48111400-48112600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:48111400-48113000	Enhancers	Fetal Lung	lung
35	chr4:48111400-48114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:48111400-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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