Variant report

Variant	rs34754739
Chromosome Location	chr7:50301112-50301113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50300865..50303550-chr7:50347115..50348860,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12718255	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12718256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718258	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12718259	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13223169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223971	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13225200	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13230749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238273	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13241213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34049075	0.90[EUR][1000 genomes]
rs34175022	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34258132	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34311116	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34406736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34740011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34856226	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34861102	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34873848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34920847	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34936043	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34971464	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35019961	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35048559	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35064086	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35220048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35295940	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35420653	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35680007	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35946624	0.90[EUR][1000 genomes]
rs35985210	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36039109	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4299958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58554383	1.00[AFR][1000 genomes]
rs61339774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955602	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6956110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962406	0.95[EUR][1000 genomes]
rs6963387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963656	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965399	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6979359	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71538375	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71538376	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71538377	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71538378	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71538384	0.90[EUR][1000 genomes]
rs73344204	1.00[AFR][1000 genomes]
rs73344208	1.00[AFR][1000 genomes]
rs73344210	1.00[AFR][1000 genomes]
rs73344213	1.00[AFR][1000 genomes]
rs73344215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344219	1.00[AFR][1000 genomes]
rs73346247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346249	1.00[AFR][1000 genomes]
rs73346263	0.95[AFR][1000 genomes]
rs73346265	1.00[AFR][1000 genomes]
rs73346272	1.00[AFR][1000 genomes]
rs73346275	0.84[AFR][1000 genomes]
rs73346278	0.95[AFR][1000 genomes]
rs73346280	0.95[AFR][1000 genomes]
rs7811173	0.95[EUR][1000 genomes];0.88[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50298000-50301800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:50298000-50304000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:50298000-50306200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:50299000-50301200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:50299000-50306000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:50299200-50305600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:50299200-50305800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:50299400-50301400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:50299400-50301800	Enhancers	Primary T cells from cord blood	blood
10	chr7:50300000-50303000	Enhancers	Thymus	Thymus
11	chr7:50300000-50306000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:50300200-50302200	Enhancers	Dnd41	blood
13	chr7:50300200-50304400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:50300200-50306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50300400-50301800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:50300400-50305800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:50300800-50301600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:50300800-50306400	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:50301000-50301200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:50301000-50302000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:50301000-50305600	Enhancers	Fetal Thymus	thymus
22	chr7:50301000-50306400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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