Variant report

Variant	rs17323012
Chromosome Location	chr4:119605671-119605672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:119605540-119605690	AoAF	blood vessel:	n/a	n/a
2	EP300	chr4:119605668-119605794	GM12878	blood:	n/a	n/a
3	MAZ	chr4:119605530-119607231	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119603589..119605828-chr4:119610331..119611922,3	MCF-7	breast:
2	chr4:119596615..119599106-chr4:119604524..119606200,2	MCF-7	breast:
3	chr4:119598821..119601848-chr4:119602185..119606095,4	K562	blood:
4	chr4:119602965..119604556-chr4:119604808..119606463,2	K562	blood:
5	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24D-1	chr4:119605563-119605741	NONHSAT098016

No data

Variant related genes	Relation type
METTL14	TF binding region
ENSG00000269893	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11098451	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11931194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938970	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17257039	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17257945	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258050	0.92[CEU][hapmap];1.00[AFR][1000 genomes]
rs17258106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258830	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs17258907	0.80[CEU][hapmap]
rs17323034	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17323877	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes]
rs17324807	0.89[CEU][hapmap]
rs17324821	0.88[CEU][hapmap]
rs17324884	1.00[ASW][hapmap];0.92[CEU][hapmap]
rs17324968	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs28595532	0.84[EUR][1000 genomes]
rs28600971	0.84[EUR][1000 genomes]
rs28627331	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41455648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs55634130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56000725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56225646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73842212	1.00[AMR][1000 genomes];1.00[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119592800-119606200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:119604600-119606000	Enhancers	Fetal Intestine Small	intestine
3	chr4:119604800-119605800	Weak transcription	Liver	Liver
4	chr4:119604800-119606000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:119604800-119606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:119604800-119606000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:119604800-119606000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:119604800-119606000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:119604800-119606200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:119604800-119606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:119605000-119605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:119605000-119605800	Enhancers	Dnd41	blood
15	chr4:119605000-119605800	Weak transcription	HMEC	breast
16	chr4:119605000-119606000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:119605000-119606000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:119605000-119606000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:119605000-119606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:119605000-119606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:119605000-119606200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:119605000-119606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:119605000-119606200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:119605000-119606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:119605000-119606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:119605000-119606200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:119605200-119606200	Flanking Active TSS	HepG2	liver
28	chr4:119605200-119607400	Active TSS	Hela-S3	cervix
29	chr4:119605400-119606000	Enhancers	Fetal Intestine Large	intestine
30	chr4:119605600-119605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:119605600-119605800	Enhancers	Brain Anterior Caudate	brain
32	chr4:119605600-119605800	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:119605600-119605800	Enhancers	K562	blood
34	chr4:119605600-119606000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:119605600-119606000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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