Variant report

Variant	rs2877648
Chromosome Location	chr14:24953853-24953854
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	chr14:24952643..24955226-chr14:24957985..24960918,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10146671	0.84[EUR][1000 genomes]
rs11158727	0.87[EUR][1000 genomes]
rs11627321	0.85[EUR][1000 genomes]
rs11627992	0.87[EUR][1000 genomes]
rs11851739	0.86[EUR][1000 genomes]
rs12436014	0.86[EUR][1000 genomes]
rs12436015	0.86[EUR][1000 genomes]
rs12436183	0.86[EUR][1000 genomes]
rs12436184	0.86[EUR][1000 genomes]
rs12436713	0.87[EUR][1000 genomes]
rs12882754	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12887337	0.83[EUR][1000 genomes]
rs12888641	0.83[EUR][1000 genomes]
rs12895103	0.82[EUR][1000 genomes]
rs12896259	0.82[EUR][1000 genomes]
rs17184822	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs1885108	0.94[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1951133	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1951138	0.87[EUR][1000 genomes]
rs1951139	0.87[EUR][1000 genomes]
rs1951140	0.87[EUR][1000 genomes]
rs2253220	0.86[EUR][1000 genomes]
rs2273627	0.87[EUR][1000 genomes]
rs2332335	0.82[EUR][1000 genomes]
rs2332336	0.86[EUR][1000 genomes]
rs2332337	0.86[EUR][1000 genomes]
rs2332338	0.86[EUR][1000 genomes]
rs2332339	0.86[EUR][1000 genomes]
rs2332340	0.86[EUR][1000 genomes]
rs2332341	0.84[EUR][1000 genomes]
rs2332342	0.84[EUR][1000 genomes]
rs2332343	0.84[EUR][1000 genomes]
rs2332344	0.85[EUR][1000 genomes]
rs2332345	0.85[EUR][1000 genomes]
rs2332346	0.85[EUR][1000 genomes]
rs2332349	0.87[EUR][1000 genomes]
rs2332350	0.87[EUR][1000 genomes]
rs2332351	0.87[EUR][1000 genomes]
rs2877643	0.82[EUR][1000 genomes]
rs2877644	0.82[EUR][1000 genomes]
rs2877646	0.85[EUR][1000 genomes]
rs34207026	0.85[EUR][1000 genomes]
rs35396435	0.85[EUR][1000 genomes]
rs35741729	0.85[EUR][1000 genomes]
rs4403961	0.86[EUR][1000 genomes]
rs4457901	0.87[EUR][1000 genomes]
rs4467000	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4508338	0.87[EUR][1000 genomes]
rs4547263	0.82[AFR][1000 genomes]
rs4981528	0.86[EUR][1000 genomes]
rs4982930	0.81[EUR][1000 genomes]
rs4982933	0.87[EUR][1000 genomes]
rs4982936	0.87[EUR][1000 genomes]
rs4982938	0.87[EUR][1000 genomes]
rs4982939	0.87[EUR][1000 genomes]
rs4982940	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs4982941	0.87[EUR][1000 genomes]
rs4982942	0.87[EUR][1000 genomes]
rs4982943	0.87[EUR][1000 genomes]
rs4982944	0.87[EUR][1000 genomes]
rs5244	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs61999094	0.85[EUR][1000 genomes]
rs61999100	0.85[EUR][1000 genomes]
rs6573825	0.87[EUR][1000 genomes]
rs6573826	0.87[EUR][1000 genomes]
rs6573827	0.87[EUR][1000 genomes]
rs7140707	0.84[EUR][1000 genomes]
rs7142828	0.80[EUR][1000 genomes]
rs7142862	0.81[EUR][1000 genomes]
rs7143604	0.86[EUR][1000 genomes]
rs7149997	0.81[EUR][1000 genomes]
rs7152372	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7152718	0.81[EUR][1000 genomes]
rs7152749	0.87[EUR][1000 genomes]
rs7159031	0.86[EUR][1000 genomes]
rs7160659	0.86[EUR][1000 genomes]
rs731768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs743214	0.82[EUR][1000 genomes]
rs743215	0.87[EUR][1000 genomes]
rs753068	0.87[EUR][1000 genomes]
rs753069	0.87[EUR][1000 genomes]
rs761989	0.82[EUR][1000 genomes]
rs761991	0.87[EUR][1000 genomes]
rs761993	0.87[EUR][1000 genomes]
rs761994	0.87[EUR][1000 genomes]
rs761995	0.87[EUR][1000 genomes]
rs761996	0.87[EUR][1000 genomes]
rs8005263	0.87[EUR][1000 genomes]
rs8007187	0.87[EUR][1000 genomes]
rs8011574	0.87[EUR][1000 genomes]
rs8014283	0.86[EUR][1000 genomes]
rs8015027	0.87[EUR][1000 genomes]
rs8015201	0.86[EUR][1000 genomes]
rs8015404	0.87[EUR][1000 genomes]
rs8015553	0.87[EUR][1000 genomes]
rs8017348	0.87[EUR][1000 genomes]
rs8019282	0.85[EUR][1000 genomes]
rs874397	0.87[EUR][1000 genomes]
rs911373	0.87[EUR][1000 genomes]
rs911374	0.87[EUR][1000 genomes]
rs911375	0.87[EUR][1000 genomes]
rs911376	0.87[EUR][1000 genomes]
rs911377	0.87[EUR][1000 genomes]
rs911378	0.87[EUR][1000 genomes]
rs9788543	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	esv2761824	chr14:24914008-24993666	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
5	nsv1043355	chr14:24914008-24993666	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
6	nsv1045732	chr14:24914008-25019317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
7	nsv523200	chr14:24915383-24975032	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	nsv521915	chr14:24915383-24992619	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
9	nsv564062	chr14:24915383-24992619	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
10	nsv1039955	chr14:24927313-24993666	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
11	nsv1035903	chr14:24929447-24981097	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
12	nsv542001	chr14:24929447-24981097	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
13	nsv1042290	chr14:24930993-24990765	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
14	nsv542002	chr14:24930993-24990765	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2877648	SDR39U1	cis	lymphoblastoid	seeQTL
rs2877648	PIGR	trans	cerebellum	SCAN
rs2877648	EDDM3A	cis	cerebellum	SCAN
rs2877648	RNASE8	cis	parietal	SCAN
rs2877648	RNASE10	cis	parietal	SCAN
rs2877648	SDR39U1	cis	cerebellum	SCAN
rs2877648	CBLN3	cis	cerebellum	SCAN
rs2877648	TOX4	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24950800-24954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:24951000-24954000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:24951400-24954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:24951400-24954000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:24951400-24954400	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:24952000-24954000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:24952000-24954000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:24952200-24954000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:24952200-24954000	Enhancers	Fetal Thymus	thymus
10	chr14:24952200-24954200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:24952400-24954000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:24952400-24954000	Enhancers	Thymus	Thymus
13	chr14:24952600-24954000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:24952600-24954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:24952600-24954000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:24952800-24954000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:24953400-24954200	Enhancers	Primary T cells from cord blood	blood
18	chr14:24953800-24954200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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