Variant report

Variant	rs4696774
Chromosome Location	chr4:8173854-8173855
allele	C/T
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	BCL3	chr4:8173697-8173995	GM12878	blood:	n/a	n/a
2	PAX5	chr4:8173806-8174404	GM12878	blood:	n/a	n/a
3	PBX3	chr4:8173810-8174024	GM12878	blood:	n/a	n/a
4	MTA3	chr4:8173776-8174249	GM12878	blood:	n/a	n/a
5	TCF3	chr4:8173799-8174395	GM12878	blood:	n/a	n/a
6	YY1	chr4:8173747-8174257	GM12892	blood:	n/a	n/a
7	SPI1	chr4:8173756-8174428	GM12878	blood:	n/a	chr4:8173933-8173946
8	SPI1	chr4:8173741-8174120	GM12891	blood:	n/a	chr4:8173933-8173946
9	MXI1	chr4:8173825-8174417	GM12878	blood:	n/a	n/a
10	SPI1	chr4:8173742-8174078	GM12878	blood:	n/a	chr4:8173933-8173946
11	RUNX3	chr4:8173799-8174349	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GMPSP1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10938694	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1281117	0.84[JPT][hapmap]
rs4696776	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	esv3464735	chr4:8165140-8174330	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3464734	chr4:8165177-8174283	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3464736	chr4:8165177-8174283	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv822469	chr4:8165349-8174115	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1794683	chr4:8165884-8173919	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv441857	chr4:8165884-8173919	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8170800-8175600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:8171800-8174000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:8172400-8174400	Bivalent Enhancer	Placenta	Placenta
5	chr4:8172400-8175600	Weak transcription	Psoas Muscle	Psoas
6	chr4:8172400-8181600	Weak transcription	Esophagus	oesophagus
7	chr4:8172600-8175400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:8173000-8174400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:8173000-8174600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8173200-8174000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr4:8173200-8174400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:8173400-8174000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr4:8173400-8174200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:8173400-8174400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr4:8173400-8175800	Enhancers	Primary B cells from cord blood	blood
16	chr4:8173600-8174200	Enhancers	HSMMtube	muscle
17	chr4:8173600-8174400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:8173600-8174600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:8173600-8174600	Flanking Active TSS	GM12878-XiMat	blood
20	chr4:8173800-8174000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:8173800-8174000	Bivalent Enhancer	Osteobl	bone
22	chr4:8173800-8174200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:8173800-8174400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr4:8173800-8174600	Enhancers	Fetal Thymus	thymus
25	chr4:8173800-8175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:8173800-8176200	Enhancers	Spleen	Spleen
27	chr4:8173800-8178400	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links