Variant report

Variant	rs12706851
Chromosome Location	chr7:128079320-128079321
allele	A/C
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:
6	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000273184	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10954184	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10954186	0.85[ASN][1000 genomes]
rs11765023	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs11765126	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773251	0.82[ASN][1000 genomes]
rs11973781	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11977296	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981766	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983847	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12536006	0.86[ASN][1000 genomes]
rs12706850	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13221784	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13222212	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227646	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242340	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13312278	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2076805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2228075	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs34848853	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35649907	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566975	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs55826686	0.84[ASN][1000 genomes]
rs67076895	0.84[ASN][1000 genomes]
rs67091533	0.85[ASN][1000 genomes]
rs6975115	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[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
rs12706851	IMPDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:20 , 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	chr7:128076400-128079600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:128076400-128083400	Weak transcription	Placenta	Placenta
11	chr7:128076400-128083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:128076400-128084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:128077000-128079800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:128077600-128079400	Enhancers	K562	blood
15	chr7:128078200-128079800	Enhancers	Primary B cells from cord blood	blood
16	chr7:128078400-128079600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:128078800-128083800	Weak transcription	GM12878-XiMat	blood
19	chr7:128079000-128079600	Enhancers	Adipose Nuclei	Adipose
20	chr7:128079200-128079400	Enhancers	Sigmoid Colon	Sigmoid Colon

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