Variant report

Variant	rs7139422
Chromosome Location	chr12:103837056-103837057
allele	A/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	chr12:103836444-103837139	GM12878	blood:	n/a	chr12:103836809-103836822
2	NFIC	chr12:103836453-103837197	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
C12orf42	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10128971	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10400501	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10400505	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10400542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10400543	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10467019	0.86[CHB][hapmap]
rs10467020	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10467024	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10507165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10860994	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10860998	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10860999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861001	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10861002	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861003	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861004	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861020	0.80[EUR][1000 genomes]
rs11111547	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11111548	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11111549	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11111550	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11111567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11111568	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11111589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111590	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11111594	0.92[YRI][hapmap]
rs11111600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs11111602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11111606	0.82[ASN][1000 genomes]
rs12227434	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12227436	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12230097	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12230309	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12296677	0.84[EUR][1000 genomes]
rs12296693	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12298824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs12302389	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12304113	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12308341	0.87[CEU][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12311801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317094	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12317177	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814770	0.80[EUR][1000 genomes]
rs12815173	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12816735	1.00[CEU][hapmap]
rs12823492	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12825882	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12830978	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1317388	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1317389	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1317390	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17033809	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs17033834	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033840	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033932	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1879619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2374046	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2374064	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2374066	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2374071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2888734	1.00[CEU][hapmap]
rs35045561	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35663013	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35982214	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135654	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7303337	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7303437	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7310675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs7957584	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7957668	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7972044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3338592	chr12:103817534-103849094	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103834400-103837400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:103835200-103837400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:103835400-103837400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:103835400-103838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:103835600-103837200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:103835600-103837400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:103835600-103837600	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:103835600-103837600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:103835600-103837600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:103835600-103837600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:103835600-103837800	Enhancers	Primary T cells from cord blood	blood
12	chr12:103835600-103838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:103835600-103838400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:103835600-103838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:103835800-103837400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:103835800-103837600	Enhancers	Primary B cells from cord blood	blood
17	chr12:103836000-103837200	Flanking Active TSS	GM12878-XiMat	blood
18	chr12:103836600-103837200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:103836600-103837200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:103837000-103837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:103837000-103837200	Enhancers	Thymus	Thymus

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