Variant report

Variant	rs12514001
Chromosome Location	chr5:126096861-126096862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
2	chr5:126092644..126095197-chr5:126095579..126097728,2	K562	blood:

Variant related genes	Relation type
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11745988	0.89[ASN][1000 genomes]
rs11748382	0.81[CHB][hapmap]
rs12523041	0.83[CHD][hapmap]
rs17598783	0.83[CHD][hapmap]
rs6595735	0.81[ASN][1000 genomes]
rs7704384	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:126094400-126097800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:126094400-126097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:126094400-126097800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:126095000-126097800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:126095000-126097800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:126095000-126098000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:126095200-126097200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:126095200-126097800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:126095200-126097800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:126095200-126098200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:126095400-126097600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:126095400-126097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:126095400-126097800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:126095400-126098000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:126095600-126097800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:126095600-126097800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:126095600-126098000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:126095800-126097000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:126095800-126097800	Weak transcription	Primary B cells from cord blood	blood
21	chr5:126095800-126097800	Weak transcription	HepG2	liver
22	chr5:126095800-126098200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:126096200-126097200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:126096400-126097000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:126096800-126097200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:126096800-126097200	Flanking Active TSS	GM12878-XiMat	blood

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