Variant report

Variant	rs7489231
Chromosome Location	chr12:57614484-57614485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57613858..57614542-chr12:57632990..57633523,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10783815	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783816	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800162	0.88[EUR][1000 genomes]
rs1800164	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68176600	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301155	0.92[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs7311958	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7956686	0.87[EUR][1000 genomes]
rs7956957	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7965424	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7489231	KRT71	cis	parietal	SCAN
rs7489231	COQ10A	cis	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57609800-57614600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:57611400-57614600	Bivalent Enhancer	Fetal Lung	lung
3	chr12:57611400-57614600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr12:57611400-57615400	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr12:57611400-57623000	Weak transcription	Right Atrium	heart
6	chr12:57611800-57615600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr12:57611800-57618400	Weak transcription	Pancreas	Pancrea
8	chr12:57612600-57617400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr12:57612800-57614600	Weak transcription	A549	lung
10	chr12:57612800-57616800	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr12:57612800-57618000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:57613200-57615800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:57613400-57615600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:57613400-57615800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:57613400-57620400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr12:57613600-57614800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr12:57613600-57615600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr12:57613600-57615600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr12:57613800-57615800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:57613800-57616000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr12:57613800-57620000	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr12:57614000-57614600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:57614000-57615200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:57614000-57615600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr12:57614000-57615800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:57614000-57615800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:57614000-57616600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr12:57614000-57618800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr12:57614200-57614600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:57614200-57614600	Enhancers	Right Ventricle	heart
33	chr12:57614400-57614600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr12:57614400-57614600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
35	chr12:57614400-57614600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:57614400-57614800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:57614400-57614800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr12:57614400-57615200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:57614400-57616000	Enhancers	K562	blood
40	chr12:57614400-57616600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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