Variant report

Variant	rs9348123
Chromosome Location	chr6:166771814-166771815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166765094..166767383-chr6:166770305..166772317,2	K562	blood:
2	chr6:166764431..166767383-chr6:166770305..166772184,2	K562	blood:
3	chr6:166771550..166776527-chr6:166791729..166798170,6	K562	blood:

Variant related genes	Relation type
ENSG00000261420	Chromatin interaction
ENSG00000060762	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1546853	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1546854	0.81[CEU][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs1546855	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1569459	0.92[EUR][1000 genomes]
rs1569460	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs1569461	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1977049	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1977050	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1977051	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1977052	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1977053	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1977054	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1977056	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179177	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2343591	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3734605	0.95[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs3757194	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3757195	0.91[CEU][hapmap];0.87[GIH][hapmap];0.90[EUR][1000 genomes]
rs4305699	0.95[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs4710043	0.87[EUR][1000 genomes]
rs6456078	0.91[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6456079	0.91[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6456081	0.91[EUR][1000 genomes]
rs6905635	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6906844	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6912695	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs6918091	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6918135	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7449594	0.82[EUR][1000 genomes]
rs7449629	0.91[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs7744743	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7752716	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9283865	0.90[EUR][1000 genomes]
rs9295338	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9295341	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9295342	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9295343	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9295344	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295345	0.85[EUR][1000 genomes]
rs9348124	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9348125	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9348126	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9355574	0.95[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9355575	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9356482	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9356483	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9364845	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364846	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9364847	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9364848	0.85[EUR][1000 genomes]
rs9366009	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9366010	0.81[EUR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv1797072	chr6:166766142-166782143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166757000-166779200	Weak transcription	Right Atrium	heart
2	chr6:166765600-166773800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:166765600-166776400	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:166765600-166777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:166765800-166776200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:166765800-166776200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:166765800-166776600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:166765800-166778000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:166766000-166773800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:166766800-166774600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:166766800-166776400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:166767200-166774000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:166768400-166773200	Weak transcription	HepG2	liver
14	chr6:166768800-166774600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:166769400-166774000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:166769400-166774200	Weak transcription	Lung	lung
17	chr6:166769400-166775600	Weak transcription	Pancreas	Pancrea
18	chr6:166769400-166776600	Weak transcription	Gastric	stomach
19	chr6:166769400-166777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:166770200-166776200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:166771000-166776600	Weak transcription	GM12878-XiMat	blood
22	chr6:166771400-166776600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:166771600-166776400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:166771800-166772000	Active TSS	Sigmoid Colon	Sigmoid Colon

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