Variant report

Variant	rs12205478
Chromosome Location	chr6:14857515-14857516
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	chr6:14856336..14859262-chr6:14863134..14864951,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10949262	0.89[ASN][1000 genomes]
rs12208192	0.87[ASN][1000 genomes]
rs16875783	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs418110	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs447166	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60825225	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9800636	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9800899	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1017572	chr6:14830510-14906933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14850400-14866200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:14855600-14861200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:14855600-14864400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:14855800-14861200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:14855800-14864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:14856000-14861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:14856200-14859400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:14856800-14857800	Weak transcription	K562	blood
9	chr6:14857000-14857600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:14857000-14858000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:14857000-14860000	Enhancers	Fetal Thymus	thymus
12	chr6:14857200-14857600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:14857200-14857600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:14857200-14857600	Enhancers	Primary B cells from cord blood	blood
15	chr6:14857200-14857600	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:14857200-14857600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:14857200-14857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:14857200-14857600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:14857200-14857800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:14857200-14857800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr6:14857200-14857800	Enhancers	Thymus	Thymus
22	chr6:14857200-14858000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:14857200-14858000	Enhancers	Primary T cells from cord blood	blood
24	chr6:14857200-14858000	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:14857200-14858000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:14857200-14858000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr6:14857200-14858200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr6:14857200-14858400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:14857400-14857600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:14857400-14857800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:14857400-14857800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:14857400-14857800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:14857400-14857800	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:14857400-14857800	Enhancers	Lung	lung
35	chr6:14857400-14857800	Enhancers	GM12878-XiMat	blood
36	chr6:14857400-14858000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr6:14857400-14858000	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:14857400-14858000	Enhancers	Spleen	Spleen
39	chr6:14857400-14858200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:14857400-14858200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:14857400-14858200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:14857400-14858400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:14857400-14858400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr6:14857400-14858400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:14857400-14858400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:14857400-14858600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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