Variant report

Variant	rs6700440
Chromosome Location	chr1:160473270-160473271
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	GATA2	chr1:160473036-160473305	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr1:160473090-160473348	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000223009	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10797069	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10797072	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10797076	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10797077	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908782	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11265418	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11265432	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11265433	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs12134393	0.83[GIH][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs1324734	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1503859	1.00[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs1503860	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs1503861	0.83[EUR][1000 genomes]
rs2050523	0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2147466	1.00[CEU][hapmap]
rs3737788	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737789	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737792	0.83[GIH][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs3766390	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3845627	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898642	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903887	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903888	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904694	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145896	0.85[ASN][1000 genomes]
rs4268352	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6413899	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6427521	0.80[ASN][1000 genomes]
rs6427522	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427523	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6427524	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427525	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6427528	0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs6427530	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs6662885	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6680709	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6689237	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6691593	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6696595	0.95[ASN][1000 genomes]
rs6700764	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519809	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533828	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7535796	0.82[ASN][1000 genomes]
rs7547372	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7555581	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3409143	chr1:160473211-160473592	ZNF genes & repeats Weak transcription Genic enhancers Enhancers	TF binding region	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	chr1:160466200-160474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:160468000-160477000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr1:160470800-160475400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:160471200-160475200	Weak transcription	Placenta	Placenta
5	chr1:160471400-160474600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:160471600-160474200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:160471600-160474600	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr1:160471600-160474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:160471800-160473800	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr1:160471800-160474600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:160472000-160475200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:160472400-160474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:160472600-160473400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:160472600-160473800	Enhancers	Thymus	Thymus
15	chr1:160472800-160474600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:160472800-160474800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:160472800-160474800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:160473000-160473400	Weak transcription	Primary T cells from cord blood	blood
19	chr1:160473000-160473800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:160473000-160473800	Enhancers	Fetal Thymus	thymus
21	chr1:160473000-160474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:160473200-160473800	Weak transcription	Primary B cells from cord blood	blood
23	chr1:160473200-160474800	Enhancers	Stomach Mucosa	stomach

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