Variant report

Variant	rs17152072
Chromosome Location	chr7:128080132-128080133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128077598..128080477-chr7:128092228..128095663,3	K562	blood:
2	chr7:128079058..128081650-chr7:128094503..128096174,2	MCF-7	breast:
3	chr7:128073893..128075485-chr7:128078567..128080438,2	K562	blood:
4	chr7:128079136..128080661-chr7:128088834..128090838,2	K562	blood:
5	chr7:128078754..128080265-chr7:131302994..131305556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1014506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1035971	0.86[JPT][hapmap]
rs1053124	0.82[JPT][hapmap]
rs1056633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1864233	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4236626	0.81[EUR][1000 genomes]
rs4552841	0.88[AMR][1000 genomes]
rs4728109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728127	1.00[AFR][1000 genomes]
rs4731447	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs4731456	0.86[AMR][1000 genomes]
rs4731457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731458	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4731470	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731471	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731495	1.00[AFR][1000 genomes]
rs5018787	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56734454	0.80[AMR][1000 genomes]
rs57271522	1.00[AFR][1000 genomes]
rs61192768	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61556684	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6952886	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72624969	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17152072	IMPDH1	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
3	chr7:128075600-128083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
6	chr7:128076000-128084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128076200-128080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:128076200-128081800	Weak transcription	HepG2	liver
9	chr7:128076400-128083400	Weak transcription	Placenta	Placenta
10	chr7:128076400-128083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:128076400-128084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:128078800-128083800	Weak transcription	GM12878-XiMat	blood
14	chr7:128079400-128083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:128079400-128085800	Weak transcription	K562	blood
16	chr7:128079600-128083600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:128079600-128083800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:128079600-128084200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:128079800-128080200	Weak transcription	Primary monocytes fromperipheralblood	blood

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