Variant report

Variant	rs2888733
Chromosome Location	chr12:103836467-103836468
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	chr12:103836444-103837139	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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10161272	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10507166	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735387	0.82[EUR][1000 genomes]
rs10745964	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10745965	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10778241	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10778244	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10778246	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10778257	0.83[EUR][1000 genomes]
rs10860997	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861000	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861005	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861014	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861015	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861022	0.82[EUR][1000 genomes]
rs10861025	0.82[EUR][1000 genomes]
rs11111555	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11111556	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11111572	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11111579	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11111582	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1320345	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2374045	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2374056	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2374057	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2374065	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2374078	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4597156	0.83[EUR][1000 genomes]
rs6539073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137784	0.85[EUR][1000 genomes]
rs7295887	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7298211	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300757	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7301460	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303147	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7304308	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305169	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7312095	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313836	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7313920	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7952759	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961410	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7967288	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7970043	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7970506	0.88[AMR][1000 genomes];0.88[EUR][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:23 , 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	chr12:103835400-103836600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:103835400-103837400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:103835400-103838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:103835600-103836600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:103835600-103836800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:103835600-103837000	Enhancers	Dnd41	blood
9	chr12:103835600-103837200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:103835600-103837400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:103835600-103837600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:103835600-103837600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:103835600-103837600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:103835600-103837600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:103835600-103837800	Enhancers	Primary T cells from cord blood	blood
16	chr12:103835600-103838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:103835600-103838400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:103835600-103838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:103835800-103837400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:103835800-103837600	Enhancers	Primary B cells from cord blood	blood
21	chr12:103836000-103837200	Flanking Active TSS	GM12878-XiMat	blood
22	chr12:103836400-103837000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:103836400-103837000	Weak transcription	Thymus	Thymus

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