Variant report

Variant	rs7413789
Chromosome Location	chr1:160577252-160577253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160524454..160527285-chr1:160577181..160579481,2	K562	blood:
2	chr1:160576697..160577384-chr8:130983681..130984391,2	MCF-7	breast:
3	chr1:160576861..160577411-chr1:160588261..160588811,2	MCF-7	breast:
4	chr1:160514285..160515083-chr1:160576553..160577497,2	K562	blood:
5	chr1:160397555..160399222-chr1:160576593..160577564,27	K562	blood:
6	chr1:160514566..160515087-chr1:160576968..160577551,2	MCF-7	breast:
7	chr1:160398536..160399043-chr1:160576628..160577489,2	MCF-7	breast:
8	chr1:160386268..160386812-chr1:160576912..160577553,2	MCF-7	breast:

No data

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10797072	0.89[EUR][1000 genomes]
rs10797077	0.89[CHB][hapmap];0.82[TSI][hapmap]
rs10797078	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10908787	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10908788	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10908790	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10908793	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11265433	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11265436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265445	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11265446	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1149381	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324734	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1408597	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466932	0.82[GIH][hapmap];0.82[TSI][hapmap]
rs1466933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1503846	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1503856	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1503859	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1503860	0.89[CHB][hapmap]
rs1553458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1590450	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604784	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1875766	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs2050523	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2134705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2369721	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2369723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2438181	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs349250	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs349251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845627	1.00[CEU][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3898642	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3903887	0.83[EUR][1000 genomes]
rs3903888	0.83[EUR][1000 genomes]
rs3904694	0.83[EUR][1000 genomes]
rs4145896	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4268352	0.83[EUR][1000 genomes]
rs6413899	0.89[EUR][1000 genomes]
rs6427523	0.89[EUR][1000 genomes]
rs6427528	0.89[CHB][hapmap]
rs6427530	0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6427536	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6427537	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6657941	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6659814	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6662885	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6668881	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680709	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6680920	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689237	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6691593	0.89[EUR][1000 genomes]
rs6696595	0.81[EUR][1000 genomes]
rs6700764	0.83[EUR][1000 genomes]
rs724985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519809	0.83[EUR][1000 genomes]
rs7519913	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7522715	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7535796	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7543788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7549772	0.81[AMR][1000 genomes]
rs7555581	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7555826	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs977020	0.87[GIH][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160574000-160578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:160575000-160577400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:160575000-160577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:160575200-160577400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:160575200-160577600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:160575200-160577600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:160575200-160577600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:160575200-160577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:160575400-160577600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:160575600-160584000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:160575800-160577600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:160575800-160577600	Enhancers	Dnd41	blood
13	chr1:160576000-160577400	Enhancers	Primary B cells from cord blood	blood
14	chr1:160576000-160577400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:160576000-160579000	Enhancers	Liver	Liver
16	chr1:160576000-160580200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:160576200-160577600	Enhancers	K562	blood
18	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
19	chr1:160576400-160584800	Genic enhancers	Fetal Thymus	thymus
20	chr1:160576800-160577400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:160576800-160591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:160577000-160577600	Enhancers	GM12878-XiMat	blood
23	chr1:160577000-160580200	Weak transcription	Fetal Intestine Large	intestine
24	chr1:160577000-160580400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:160577000-160580800	Weak transcription	Fetal Intestine Small	intestine
26	chr1:160577000-160581000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:160577000-160584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:160577000-160590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:160577200-160577400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:160577200-160577600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr1:160577200-160577800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:160577200-160579200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:160577200-160584400	Genic enhancers	Thymus	Thymus

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