Variant report

Variant	rs7553718
Chromosome Location	chr1:211824797-211824798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211819966..211822371-chr1:211824422..211826209,2	K562	blood:
2	chr1:211750437..211753125-chr1:211823737..211827672,4	MCF-7	breast:
3	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:
4	chr1:211772625..211775526-chr1:211823895..211826461,2	K562	blood:
5	chr1:211781693..211784457-chr1:211822859..211825401,2	K562	blood:
6	chr1:211824090..211825687-chr1:211827375..211829045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11119778	0.86[ASN][1000 genomes]
rs11576130	0.87[ASN][1000 genomes]
rs11800719	0.83[ASN][1000 genomes]
rs11805128	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs12060511	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs12065353	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs12087826	0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1530400	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.99[ASN][1000 genomes]
rs2184844	0.91[CEU][hapmap]
rs3795833	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs55661489	0.82[EUR][1000 genomes]
rs6540697	0.83[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6659316	0.84[CEU][hapmap];0.95[MEX][hapmap]
rs6660850	0.83[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6675796	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6682640	0.94[ASN][1000 genomes]
rs7511687	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs7516189	0.81[CEU][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes]
rs7539988	0.84[CEU][hapmap];0.87[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs7551341	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554315	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.99[ASN][1000 genomes]
rs7554588	0.83[CEU][hapmap];0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7553718	PFKFB2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
5	chr1:211817600-211826800	Weak transcription	Gastric	stomach
6	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
8	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:211820400-211826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:211821800-211828400	Weak transcription	Colonic Mucosa	Colon
11	chr1:211822000-211826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:211822000-211826800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:211822200-211827000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:211822200-211827000	Weak transcription	NHEK	skin
15	chr1:211822200-211828400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:211822400-211827000	Weak transcription	K562	blood
17	chr1:211822600-211826800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:211822800-211827600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:211822800-211828200	Weak transcription	Liver	Liver
20	chr1:211822800-211828200	Weak transcription	Pancreas	Pancrea
21	chr1:211823000-211825600	Genic enhancers	Hela-S3	cervix
22	chr1:211823200-211827000	Weak transcription	A549	lung
23	chr1:211823400-211826400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:211823400-211826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:211824000-211826600	Weak transcription	HUVEC	blood vessel
26	chr1:211824000-211826800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:211824000-211828200	Weak transcription	Stomach Mucosa	stomach
28	chr1:211824200-211825800	Weak transcription	Placenta	Placenta
29	chr1:211824200-211826400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:211824400-211828000	Weak transcription	Duodenum Mucosa	Duodenum

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