Variant report

Variant	rs1472322
Chromosome Location	chr12:26201163-26201164
allele	G/T
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	STAT3	chr12:26200738-26201434	MCF10A-Er-Src	breast:	n/a	chr12:26201144-26201152 chr12:26201138-26201158 chr12:26201144-26201153 chr12:26201141-26201155 chr12:26201138-26201158 chr12:26201143-26201152
2	MAFF	chr12:26200919-26201257	HepG2	liver:	n/a	chr12:26201080-26201098
3	MAFK	chr12:26200922-26201261	HepG2	liver:	n/a	chr12:26201082-26201097 chr12:26201123-26201138
4	MAFK	chr12:26200913-26201260	HepG2	liver:	n/a	chr12:26201082-26201097 chr12:26201123-26201138
5	MAFK	chr12:26200927-26201246	Hela-S3	cervix:	n/a	chr12:26201082-26201097 chr12:26201123-26201138
6	MAFK	chr12:26200768-26201231	H1-hESC	embryonic stem cell:	n/a	chr12:26201082-26201097 chr12:26201123-26201138
7	MAFF	chr12:26201006-26201261	K562	blood:	n/a	chr12:26201080-26201098
8	MAFK	chr12:26200907-26201271	IMR90	lung:	n/a	chr12:26201082-26201097 chr12:26201123-26201138
9	STAT3	chr12:26200759-26201305	MCF10A-Er-Src	breast:	n/a	chr12:26201144-26201152 chr12:26201138-26201158 chr12:26201144-26201153 chr12:26201141-26201155 chr12:26201138-26201158 chr12:26201143-26201152
10	MAFK	chr12:26200971-26201187	K562	blood:	n/a	chr12:26201082-26201097 chr12:26201123-26201138

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26200605..26203290-chr12:26207731..26209424,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1069974	0.87[ASN][1000 genomes]
rs10732539	0.87[ASN][1000 genomes]
rs10842649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10842657	0.87[ASN][1000 genomes]
rs11048399	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1167537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1390322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1390325	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];0.87[ASN][1000 genomes]
rs1495656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1495658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1495661	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];0.87[ASN][1000 genomes]
rs1513125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[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]
rs1513126	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1826754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1979748	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1994996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2055181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2634179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2643937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2669555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2729636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2729645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2729651	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]
rs2729661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2729662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3803007	0.87[ASN][1000 genomes]
rs56306595	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706522	0.87[ASN][1000 genomes]
rs706525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs706527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs706528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7310826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7972703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7980111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs829986	0.87[ASN][1000 genomes]
rs863807	0.87[ASN][1000 genomes]
rs864920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs924050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs924051	1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26195200-26201200	Enhancers	Colon Smooth Muscle	Colon
3	chr12:26196200-26208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:26196400-26219800	Weak transcription	Fetal Kidney	kidney
5	chr12:26196800-26201400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:26197000-26201600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:26197000-26208200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:26197200-26206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:26197200-26209400	Weak transcription	NHLF	lung
10	chr12:26197200-26211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
12	chr12:26197600-26209200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:26197800-26201400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:26197800-26209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:26199200-26220200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:26199400-26221600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:26199800-26201600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:26200000-26201400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:26200000-26205400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:26200000-26205800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:26200400-26201200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:26200400-26201200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:26200400-26201400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:26200400-26201400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:26200400-26201400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:26200400-26201400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:26200400-26201600	Enhancers	Psoas Muscle	Psoas
28	chr12:26200400-26201600	Enhancers	Right Atrium	heart
29	chr12:26200600-26201200	Weak transcription	NHDF-Ad	bronchial
30	chr12:26200600-26201400	Enhancers	Fetal Heart	heart
31	chr12:26200600-26201600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:26200600-26201600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr12:26200600-26209200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:26200800-26201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:26200800-26201200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:26200800-26201200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:26200800-26201400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:26200800-26201400	Enhancers	Osteobl	bone
39	chr12:26200800-26201600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:26200800-26202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:26200800-26206400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:26200800-26207400	Weak transcription	Pancreas	Pancrea
43	chr12:26200800-26208800	Weak transcription	Lung	lung
44	chr12:26200800-26209200	Weak transcription	Fetal Brain Male	brain
45	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:26201000-26201200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:26201000-26201400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:26201000-26201600	Enhancers	Right Ventricle	heart
49	chr12:26201000-26204800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:26201000-26205400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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