Variant report

Variant	rs12318389
Chromosome Location	chr12:123652729-123652730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123652377-123652898	K562	blood:	n/a	n/a
2	POLR2A	chr12:123652500-123652852	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123652587..123654212-chr12:123716240..123718680,2	K562	blood:

Variant related genes	Relation type
MPHOSPH9	TF binding region
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10846468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10846471	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[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs10846473	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10846484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846513	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs10848363	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10848365	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs10848429	0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11057172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11057175	0.91[AMR][1000 genomes]
rs11057180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11057244	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11061166	0.87[ASN][1000 genomes]
rs11061601	0.87[ASN][1000 genomes]
rs11061611	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061614	0.91[AMR][1000 genomes]
rs11061616	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12298355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12302120	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12302334	0.82[MEX][hapmap]
rs12306711	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12311134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12312675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12318594	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12319324	0.91[AMR][1000 genomes]
rs12366787	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123660800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:123636600-123676200	Weak transcription	Gastric	stomach
3	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
4	chr12:123636800-123675200	Weak transcription	Fetal Heart	heart
5	chr12:123636800-123679600	Weak transcription	Colonic Mucosa	Colon
6	chr12:123636800-123687400	Weak transcription	Psoas Muscle	Psoas
7	chr12:123637000-123673400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:123637000-123713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:123638000-123652800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:123638200-123652800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:123638600-123687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:123638800-123685000	Strong transcription	Fetal Thymus	thymus
14	chr12:123640200-123652800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:123640400-123676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:123640600-123657800	Weak transcription	NHLF	lung
17	chr12:123643000-123652800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:123643000-123652800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:123643000-123652800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:123644000-123652800	Strong transcription	Dnd41	blood
21	chr12:123644600-123653000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:123645000-123652800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:123645400-123660000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:123645600-123660800	Weak transcription	Fetal Brain Male	brain
25	chr12:123647000-123652800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:123647200-123652800	Strong transcription	K562	blood
27	chr12:123647400-123655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:123647400-123660800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:123647800-123652800	Strong transcription	Primary T cells from cord blood	blood
30	chr12:123648400-123652800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:123648400-123656200	Strong transcription	Fetal Stomach	stomach
32	chr12:123648400-123679200	Strong transcription	Thymus	Thymus
33	chr12:123648800-123673600	Weak transcription	HMEC	breast
34	chr12:123649000-123658400	Weak transcription	HUVEC	blood vessel
35	chr12:123649200-123652800	Strong transcription	Brain Angular Gyrus	brain
36	chr12:123649200-123652800	Genic enhancers	HepG2	liver
37	chr12:123649200-123660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:123650000-123660600	Weak transcription	Fetal Kidney	kidney
39	chr12:123650400-123686400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:123650600-123655000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123650600-123655000	Weak transcription	Fetal Lung	lung
42	chr12:123650600-123655000	Weak transcription	A549	lung
43	chr12:123650600-123655200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123650600-123658000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:123650600-123658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:123650600-123660800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123650600-123660800	Weak transcription	HSMM	muscle
48	chr12:123650600-123664600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:123650600-123664600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:123650600-123671600	Weak transcription	Brain Germinal Matrix	brain

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