Variant report

Variant	rs1122621
Chromosome Location	chr12:40909717-40909718
allele	C/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	SPI1	chr12:40909118-40909756	HL-60	blood:	n/a	chr12:40909420-40909427
2	SPI1	chr12:40909049-40909750	GM12878	blood:	n/a	chr12:40909420-40909427

Variant related genes	Relation type
MUC19	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1122863	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]
rs11564109	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11829565	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835808	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]
rs11837316	0.92[AFR][1000 genomes]
rs1427262	1.00[JPT][hapmap]
rs1492328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492329	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]
rs1492337	1.00[ASN][1000 genomes]
rs1492338	1.00[ASN][1000 genomes]
rs17128391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[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]
rs17128401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17128416	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444709	1.00[JPT][hapmap]
rs17529964	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17533153	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs17533321	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589334	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17598093	1.00[ASN][1000 genomes]
rs17598156	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599001	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599042	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599666	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17600388	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1844979	1.00[ASN][1000 genomes]
rs1844982	1.00[ASN][1000 genomes]
rs1873674	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992608	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4767980	1.00[ASN][1000 genomes]
rs4767983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4768261	1.00[ASN][1000 genomes]
rs4768265	1.00[ASN][1000 genomes]
rs4768287	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768288	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768289	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768291	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55642775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649806	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55818225	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56036709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211973	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56226314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56952712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57161116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59005564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59095251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59367732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309042	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs73094611	1.00[ASN][1000 genomes]
rs73100423	1.00[ASN][1000 genomes]
rs73100426	0.89[ASN][1000 genomes]
rs73100438	1.00[ASN][1000 genomes]
rs73106618	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106620	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106623	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110070	1.00[ASN][1000 genomes]
rs73110091	1.00[ASN][1000 genomes]
rs73112007	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73112026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114281	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73114284	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7315186	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7959536	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7960976	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3351748	chr12:40905885-40909783	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40908000-40909800	Enhancers	GM12878-XiMat	blood
2	chr12:40908000-40910400	Enhancers	HMEC	breast
3	chr12:40908200-40910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:40908400-40910200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:40908400-40910800	Enhancers	Dnd41	blood
6	chr12:40908600-40910000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:40908600-40910000	Enhancers	NHEK	skin
8	chr12:40908600-40910400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:40908800-40909800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:40908800-40909800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:40908800-40910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:40908800-40910000	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:40909000-40910200	Enhancers	Colon Smooth Muscle	Colon
14	chr12:40909400-40909800	Enhancers	Fetal Thymus	thymus
15	chr12:40909400-40911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:40909600-40910000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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