Variant report

Variant	rs4987348
Chromosome Location	chr1:169668069-169668070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1046058	1.00[AFR][1000 genomes]
rs10489173	1.00[AFR][1000 genomes]
rs10489174	1.00[AFR][1000 genomes]
rs12116524	1.00[AFR][1000 genomes]
rs12116650	1.00[AFR][1000 genomes]
rs12119368	1.00[AFR][1000 genomes]
rs12120114	1.00[AFR][1000 genomes]
rs12121443	1.00[AFR][1000 genomes]
rs12122419	1.00[AFR][1000 genomes]
rs12123432	1.00[AFR][1000 genomes]
rs12123483	1.00[AFR][1000 genomes]
rs12124775	1.00[AFR][1000 genomes]
rs12125023	1.00[AFR][1000 genomes]
rs12130372	1.00[AFR][1000 genomes]
rs12131444	1.00[AFR][1000 genomes]
rs12132222	1.00[AFR][1000 genomes]
rs12132633	1.00[AFR][1000 genomes]
rs12134837	1.00[AFR][1000 genomes]
rs12135057	1.00[AFR][1000 genomes]
rs12135726	1.00[AFR][1000 genomes]
rs12142511	1.00[AFR][1000 genomes]
rs12143301	1.00[AFR][1000 genomes]
rs17529304	1.00[AFR][1000 genomes]
rs17593862	1.00[AFR][1000 genomes]
rs17601631	1.00[AFR][1000 genomes]
rs17602072	1.00[AFR][1000 genomes]
rs17602610	1.00[AFR][1000 genomes]
rs2272919	1.00[AFR][1000 genomes]
rs41304562	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv872539	chr1:169658586-169674590	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv872540	chr1:169667355-169671088	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169662400-169676000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:169663200-169669000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:169663200-169674000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:169664000-169673400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:169664000-169674000	Genic enhancers	Fetal Thymus	thymus
7	chr1:169664000-169674200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr1:169664200-169670400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:169664400-169670800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:169664800-169669600	Genic enhancers	Dnd41	blood
11	chr1:169665400-169669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:169665800-169670000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr1:169666000-169669600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:169666200-169668400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:169666200-169668600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:169666200-169669600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:169666200-169669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:169666200-169669600	Weak transcription	Thymus	Thymus
19	chr1:169666200-169671600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:169666200-169673800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:169666600-169669600	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:169667400-169668800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:169667600-169668400	Enhancers	GM12878-XiMat	blood
24	chr1:169667600-169670000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:169667600-169673600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:169667600-169676800	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:169667800-169668400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
28	chr1:169668000-169668200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:169668000-169668600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:169668000-169668600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:169668000-169677400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood

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