Variant report

Variant	rs6817626
Chromosome Location	chr4:78005837-78005838
allele	G/T
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:6)
LncRNA
region (count:0)
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	TEAD4	chr4:78005281-78005838	K562	blood:	n/a	n/a
2	KAP1	chr4:78005190-78005951	HEK293	kidney:	n/a	n/a
3	GATA1	chr4:78005196-78005961	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:78004962..78007500-chr4:78011323..78013720,3	K562	blood:
2	chr4:77994494..77998292-chr4:78004827..78008673,3	K562	blood:
3	chr4:78005232..78007500-chr4:78011386..78013720,2	K562	blood:
4	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
5	chr4:78004700..78007279-chr4:78076812..78078342,2	K562	blood:
6	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:

No data

Variant related genes	Relation type
RPL7P17	TF binding region
ENSG00000118816	Chromatin interaction
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10002443	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs10006033	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs10031961	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10470896	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs10856952	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs11559161	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs12186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12644714	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1472399	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16996592	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17002332	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs17002334	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17002336	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17002339	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17002346	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17002420	1.00[MEX][hapmap]
rs17002482	1.00[MEX][hapmap]
rs2009261	1.00[MEX][hapmap]
rs2016811	1.00[CEU][hapmap]
rs2279711	0.80[CHB][hapmap]
rs2645668	1.00[GIH][hapmap]
rs28715145	0.98[ASN][1000 genomes]
rs41375744	1.00[MEX][hapmap]
rs41495248	1.00[MEX][hapmap]
rs4252773	1.00[GIH][hapmap]
rs4252775	1.00[MEX][hapmap]
rs4252813	0.91[ASN][1000 genomes]
rs4252858	0.98[ASN][1000 genomes]
rs4252887	0.94[ASN][1000 genomes]
rs4252896	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs4252897	0.94[ASN][1000 genomes]
rs4252913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4252930	0.93[ASN][1000 genomes]
rs4252934	1.00[MEX][hapmap]
rs4557282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859740	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6818356	1.00[MEX][hapmap]
rs6824360	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6837546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840204	1.00[MEX][hapmap]
rs7667891	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6817626	PTGS2	trans	brain	seeQTL
rs6817626	FOSB	trans	brain	seeQTL
rs6817626	CCL4	trans	brain	seeQTL
rs6817626	EGR2	trans	brain	seeQTL
rs6817626	CCL3	trans	brain	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77998400-78013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:77998400-78016800	Weak transcription	Aorta	Aorta
3	chr4:77998800-78020600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:77999400-78006600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:77999400-78012200	Weak transcription	HMEC	breast
6	chr4:77999800-78010600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:77999800-78013400	Weak transcription	Thymus	Thymus
8	chr4:78000000-78012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:78001000-78014800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:78001400-78014400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:78001600-78016400	Weak transcription	Fetal Stomach	stomach
12	chr4:78002600-78013800	Weak transcription	Primary B cells from cord blood	blood
13	chr4:78004000-78006800	Enhancers	K562	blood
14	chr4:78004400-78007200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:78004600-78013800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:78005400-78010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:78005800-78006600	Enhancers	Fetal Kidney	kidney

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