Variant report

Variant	rs4987388
Chromosome Location	chr1:169658586-169658587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169658516..169660936-chr1:169662078..169664299,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10733054	0.89[MEX][hapmap]
rs10919239	0.89[MEX][hapmap]
rs1534904	0.92[CEU][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap]
rs2205848	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2298900	0.88[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3917412	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7515714	0.92[CEU][hapmap]
rs7538317	0.92[CEU][hapmap]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4987388	C1orf112	Cis_1M	lymphoblastoid	RTeQTL
rs4987388	KIFAP3	cis	cerebellum	SCAN
rs4987388	C1orf112	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169647800-169659600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:169647800-169660000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:169648200-169659000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:169652800-169660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
6	chr1:169655000-169658600	Enhancers	Primary T cells from cord blood	blood
7	chr1:169656200-169659400	Enhancers	Primary B cells from cord blood	blood
8	chr1:169656200-169659400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:169656600-169659600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169656800-169659200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:169656800-169662600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:169657000-169659400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:169657000-169660200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:169657000-169661800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:169657200-169659200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:169657600-169658800	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:169657600-169659200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169657600-169659400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:169657800-169659600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:169657800-169659800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr1:169657800-169660200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:169657800-169660600	Enhancers	Fetal Thymus	thymus
23	chr1:169658000-169659200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:169658200-169658800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:169658200-169659400	Enhancers	Dnd41	blood
26	chr1:169658200-169660600	Enhancers	GM12878-XiMat	blood
27	chr1:169658400-169659000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:169658400-169660200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:169658400-169666200	Enhancers	Thymus	Thymus

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