Variant report

Variant	rs4987278
Chromosome Location	chr1:169679772-169679773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11581878	1.00[CEU][hapmap]
rs12034295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036824	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12036888	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038025	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038193	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038818	0.91[AFR][1000 genomes]
rs12041598	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272915	0.91[YRI][hapmap]
rs2298901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917391	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917421	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363475	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987276	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987330	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987333	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987342	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7526937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr1:169677400-169680600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:169677400-169681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:169677600-169680200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:169677600-169681000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:169677800-169680600	Active TSS	Primary T cells fromperipheralblood	blood
8	chr1:169677800-169680600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:169678000-169680000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169678000-169681000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:169678000-169681000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:169678200-169681000	Active TSS	Primary T cells from cord blood	blood
13	chr1:169678400-169681400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr1:169678600-169679800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:169678800-169679800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:169678800-169680400	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:169678800-169680400	Active TSS	Fetal Thymus	thymus
18	chr1:169678800-169680600	Active TSS	Thymus	Thymus
19	chr1:169679200-169679800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:169679200-169680600	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr1:169679200-169680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:169679200-169680600	Weak transcription	Small Intestine	intestine
23	chr1:169679400-169679800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:169679400-169680000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:169679400-169680600	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:169679400-169680800	Active TSS	Primary B cells from peripheral blood	blood
27	chr1:169679400-169680800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:169679400-169681600	Flanking Active TSS	Dnd41	blood
29	chr1:169679600-169679800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:169679600-169680200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:169679600-169680600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:169679600-169680800	Flanking Active TSS	GM12878-XiMat	blood

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