Variant report

Variant	rs6896112
Chromosome Location	chr5:178975899-178975900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr5:178975640-178976568	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:178975620-178975934	Hela-S3	cervix:	n/a	chr5:178975778-178975789
3	POLR2A	chr5:178974241-178979045	K562	blood:	n/a	n/a
4	FOXA1	chr5:178975616-178975920	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:178975626-178976364	HepG2	liver:	n/a	chr5:178975778-178975789

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:
2	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
3	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
4	chr5:178971437..178973246-chr5:178974311..178976700,2	K562	blood:
5	chr5:178975834..178978833-chr5:179245271..179247079,2	K562	blood:
6	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
7	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
8	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
9	chr5:178973738..178976008-chr5:178976265..178978073,2	K562	blood:
10	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000176783	Chromatin interaction
ENSG00000251545	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000244945	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10064596	0.83[ASN][1000 genomes]
rs10069256	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10074573	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10078712	0.90[ASN][1000 genomes]
rs10078796	0.88[ASN][1000 genomes]
rs10479542	0.90[ASN][1000 genomes]
rs12652495	0.87[ASN][1000 genomes]
rs13179470	0.88[ASN][1000 genomes]
rs13183521	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411380	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34102807	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4700835	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700836	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701130	0.90[ASN][1000 genomes]
rs4701131	0.90[ASN][1000 genomes]
rs4701132	0.87[ASN][1000 genomes]
rs6601043	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6601050	0.89[ASN][1000 genomes]
rs6869842	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875482	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6889447	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6894113	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6894980	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895321	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896940	0.88[ASN][1000 genomes]
rs7380706	0.89[ASN][1000 genomes]
rs7380974	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7702303	0.88[ASN][1000 genomes]
rs7703730	0.88[ASN][1000 genomes]
rs7718673	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7723230	0.90[ASN][1000 genomes]
rs7727647	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7733389	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7736163	0.90[ASN][1000 genomes]
rs9286047	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178958000-178976800	Weak transcription	Fetal Intestine Small	intestine
2	chr5:178958000-178977000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178963600-178976400	Weak transcription	Osteobl	bone
4	chr5:178971800-178976200	Weak transcription	Dnd41	blood
5	chr5:178972000-178976400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:178972000-178976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:178972000-178976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178972000-178976600	Weak transcription	Fetal Thymus	thymus
9	chr5:178972000-178976600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:178972000-178976800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:178972200-178976800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:178972400-178976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:178972400-178976600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:178972600-178976600	Weak transcription	GM12878-XiMat	blood
15	chr5:178973800-178976600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:178974000-178976200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:178974200-178976400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:178974200-178976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:178975000-178976800	Enhancers	Adipose Nuclei	Adipose
20	chr5:178975200-178976200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:178975200-178976200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:178975200-178976200	Enhancers	Hela-S3	cervix
23	chr5:178975200-178976600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:178975400-178976400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:178975600-178976600	Enhancers	Lung	lung
26	chr5:178975600-178977000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:178975800-178976000	Enhancers	HepG2	liver
28	chr5:178975800-178976400	Weak transcription	Fetal Muscle Trunk	muscle

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