Variant report

Variant	rs6880222
Chromosome Location	chr5:95918376-95918377
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:95918070-95918437	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr5:95918080-95918400	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr5:95918040-95918471	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr5:95917924-95918453	HCT-116	colon:	n/a	n/a
5	MAX	chr5:95918053-95918507	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr5:95918339-95918379	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:95918083-95918396	Hela-S3	cervix:	n/a	n/a
8	NR3C1	chr5:95918089-95918430	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr5:95918050-95918459	Hela-S3	cervix:	n/a	n/a
10	TBP	chr5:95918014-95918411	Hela-S3	cervix:	n/a	n/a
11	MAX	chr5:95918019-95918382	Hela-S3	cervix:	n/a	n/a
12	FOXP2	chr5:95918111-95918428	SK-N-MC	brain:	n/a	n/a
13	KAP1	chr5:95918026-95918417	HEK293	kidney:	n/a	n/a
14	TEAD4	chr5:95918011-95918433	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr5:95918078-95918400	Hela-S3	cervix:	n/a	n/a
16	NFIC	chr5:95918026-95918566	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr5:95918054-95918473	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr5:95917947-95918454	HUVEC	blood vessel:	n/a	n/a
19	CHD2	chr5:95918098-95918394	Hela-S3	cervix:	n/a	n/a

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Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12516695	0.83[AMR][1000 genomes]
rs12520714	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17086313	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061277	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061278	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124885	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs261225	0.91[ASN][1000 genomes]
rs261240	0.98[ASN][1000 genomes]
rs4869294	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56791881	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57537475	0.89[ASN][1000 genomes]
rs72772007	0.96[ASN][1000 genomes]
rs73774308	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8180398	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8180437	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8180490	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918149	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv528714	chr5:95910465-95921529	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95917200-95919800	Enhancers	Fetal Brain Male	brain
2	chr5:95917800-95918400	Enhancers	Fetal Intestine Large	intestine
3	chr5:95917800-95918400	Enhancers	Fetal Intestine Small	intestine
4	chr5:95917800-95918400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:95918000-95918400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:95918000-95918400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:95918000-95918400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:95918000-95918400	Enhancers	A549	lung
9	chr5:95918000-95918400	Flanking Active TSS	Hela-S3	cervix
10	chr5:95918000-95918400	Flanking Active TSS	HUVEC	blood vessel
11	chr5:95918000-95918400	Enhancers	NH-A	brain
12	chr5:95918000-95918400	Flanking Active TSS	Osteobl	bone
13	chr5:95918200-95918400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:95918200-95918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:95918200-95918400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
16	chr5:95918200-95918400	Flanking Active TSS	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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