Variant report

Variant	rs2055549
Chromosome Location	chr1:160576780-160576781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160576697..160577384-chr8:130983681..130984391,2	MCF-7	breast:
2	chr1:160514285..160515083-chr1:160576553..160577497,2	K562	blood:
3	chr1:160397555..160399222-chr1:160576593..160577564,27	K562	blood:
4	chr1:160398536..160399043-chr1:160576628..160577489,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10737176	0.81[AMR][1000 genomes]
rs10737177	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797079	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797080	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797081	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797082	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908795	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265437	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11265439	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11265441	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11265448	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12072476	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12134393	0.81[AMR][1000 genomes]
rs1408595	0.82[AMR][1000 genomes]
rs1466932	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503855	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875766	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118424	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118425	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2134704	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147466	0.82[AMR][1000 genomes]
rs2369722	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2369724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887545	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737792	0.81[AMR][1000 genomes]
rs4332357	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565710	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690086	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7539149	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546013	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7550663	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556477	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs977018	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs977020	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:37 , 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	chr1:160575200-160577200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:160575200-160577400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:160575200-160577600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:160575200-160577600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:160575200-160577600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:160575200-160577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:160575400-160577000	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:160575400-160577600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:160575600-160576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:160575600-160577000	Enhancers	Fetal Intestine Large	intestine
14	chr1:160575600-160577000	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:160575600-160584000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:160575800-160576800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:160575800-160576800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:160575800-160577000	Enhancers	Fetal Intestine Small	intestine
19	chr1:160575800-160577200	Enhancers	Primary T cells from cord blood	blood
20	chr1:160575800-160577600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:160575800-160577600	Enhancers	Dnd41	blood
22	chr1:160576000-160576800	Enhancers	Stomach Mucosa	stomach
23	chr1:160576000-160577400	Enhancers	Primary B cells from cord blood	blood
24	chr1:160576000-160577400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:160576000-160579000	Enhancers	Liver	Liver
26	chr1:160576000-160580200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:160576200-160576800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:160576200-160577000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:160576200-160577200	Enhancers	Thymus	Thymus
30	chr1:160576200-160577600	Enhancers	K562	blood
31	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
32	chr1:160576400-160576800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:160576400-160577000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
34	chr1:160576400-160577000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:160576400-160584800	Genic enhancers	Fetal Thymus	thymus
36	chr1:160576600-160576800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:160576600-160577000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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