Variant report

Variant	rs12436713
Chromosome Location	chr14:24953265-24953266
allele	C/G
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:
2	chr14:24940138..24941029-chr14:24952690..24953556,3	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10143048	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10146671	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10220622	0.88[CHB][hapmap]
rs11158727	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627321	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627992	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11848697	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11851739	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436014	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436015	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436183	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436184	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882754	0.84[EUR][1000 genomes]
rs12887337	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12888641	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12895103	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12896259	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17184843	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs1885108	0.82[EUR][1000 genomes]
rs1951133	0.82[EUR][1000 genomes]
rs1951138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1951139	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1951140	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2253220	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273627	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332335	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2332336	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332337	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2332338	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332339	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332340	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332341	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332342	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332343	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332344	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332345	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332346	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332349	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332350	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332351	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877643	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2877644	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2877646	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2877648	0.87[EUR][1000 genomes]
rs34207026	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34967490	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34980262	0.92[ASN][1000 genomes]
rs35396435	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35497084	0.93[ASN][1000 genomes]
rs35741729	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759635	0.88[CHB][hapmap]
rs4403961	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4457901	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4467000	0.84[EUR][1000 genomes]
rs4473103	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4508338	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981528	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982927	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4982930	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982933	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982935	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982939	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982940	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982941	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982942	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982943	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982944	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5244	0.93[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs5248	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs61999093	0.89[EUR][1000 genomes]
rs61999094	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61999100	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573825	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573826	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573827	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140707	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142828	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142862	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143604	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149997	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152372	0.80[EUR][1000 genomes]
rs7152718	0.91[EUR][1000 genomes]
rs7152749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155773	0.81[ASN][1000 genomes]
rs7159031	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160659	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs731768	0.87[EUR][1000 genomes]
rs743214	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs743215	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753068	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753069	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761989	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs761990	0.82[ASN][1000 genomes]
rs761991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs761993	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761994	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761996	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8005263	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007187	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008057	0.92[ASN][1000 genomes]
rs8011574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014283	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015027	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015201	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015553	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017348	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019282	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs874397	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs911373	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911375	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911376	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788543	0.91[EUR][1000 genomes];0.84[ASN][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24950800-24953600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr14:24950800-24954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:24951000-24953600	Enhancers	Placenta	Placenta
4	chr14:24951000-24953800	Enhancers	GM12878-XiMat	blood
5	chr14:24951000-24954000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:24951400-24954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:24951400-24954000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr14:24951400-24954400	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:24952000-24954000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:24952000-24954000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:24952200-24953800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:24952200-24954000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:24952200-24954000	Enhancers	Fetal Thymus	thymus
14	chr14:24952200-24954200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:24952400-24954000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:24952400-24954000	Enhancers	Thymus	Thymus
17	chr14:24952600-24953800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:24952600-24953800	Enhancers	HMEC	breast
19	chr14:24952600-24954000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:24952600-24954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:24952600-24954000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:24952800-24953400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:24952800-24953600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:24952800-24954000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:24953000-24953400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr14:24953000-24953600	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:24953000-24953600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:24953000-24953600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:24953000-24953600	Enhancers	Dnd41	blood
30	chr14:24953000-24953800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:24953200-24953400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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