Variant report

Variant	rs12718258
Chromosome Location	chr7:50304536-50304537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50301953..50306241-chr7:50308308..50311979,4	K562	blood:
2	chr7:50295741..50297985-chr7:50302311..50304565,2	K562	blood:
3	chr7:50301953..50305153-chr7:50308308..50311293,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12718255	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718256	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12718259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718262	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12718263	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13223169	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13223507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13223971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230749	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13238273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241213	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34049075	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34175022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34181857	0.81[EUR][1000 genomes]
rs34243680	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34258132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406736	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34484271	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34740011	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34754739	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34856226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34873848	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34919759	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34920847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34936043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967960	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34971464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35042793	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35048559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35064086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220048	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35295940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35420653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35456567	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35487792	0.81[EUR][1000 genomes]
rs35661691	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35680007	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803603	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35928979	1.00[AMR][1000 genomes]
rs35946624	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35985210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36039109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299958	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61339774	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6955602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956110	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6962406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6963347	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6963387	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6963656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538384	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71538385	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73344215	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73346247	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781824	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7811173	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50298000-50306200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50299000-50306000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:50299200-50305600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr7:50299200-50305800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:50300000-50306000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:50300200-50306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:50300400-50305800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:50300800-50306400	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:50301000-50305600	Enhancers	Fetal Thymus	thymus
10	chr7:50301000-50306400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:50301200-50306200	Enhancers	K562	blood
12	chr7:50301800-50306200	Enhancers	Primary B cells from cord blood	blood
13	chr7:50301800-50306200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:50301800-50310000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:50302000-50304800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:50302200-50305600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:50302400-50304800	Enhancers	Primary T cells from cord blood	blood
18	chr7:50302400-50305600	Weak transcription	Spleen	Spleen
19	chr7:50302600-50305400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:50302600-50305600	Enhancers	Dnd41	blood
21	chr7:50302800-50305600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:50302800-50305600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:50303400-50305800	Enhancers	Thymus	Thymus
24	chr7:50303400-50306200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:50304000-50305000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:50304000-50305000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:50304200-50304600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:50304400-50304600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:50304400-50304600	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:50304400-50305000	Enhancers	Primary T helper cells PMA-I stimulated	--

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