Variant report

Variant	rs73857798
Chromosome Location	chr4:150817983-150817984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:150817643-150818053	HCT-116	colon:	n/a	chr4:150817775-150817788
2	CTCF	chr4:150817630-150818033	SK-N-SH	brain:	n/a	chr4:150817775-150817788
3	RAD21	chr4:150817635-150818074	HCT-116	colon:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
4	RAD21	chr4:150817563-150817992	Hela-S3	cervix:	n/a	chr4:150817771-150817790
5	RAD21	chr4:150817581-150817987	H1-hESC	embryonic stem cell:	n/a	chr4:150817771-150817790
6	RAD21	chr4:150817637-150818033	ECC-1	luminal epithelium:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
7	CTCF	chr4:150817598-150817992	IMR90	lung:	n/a	chr4:150817775-150817788
8	RAD21	chr4:150817625-150818012	A549	lung:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
9	RAD21	chr4:150817627-150818041	ECC-1	luminal epithelium:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
10	RAD21	chr4:150817656-150818017	HepG2	liver:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
11	RAD21	chr4:150817656-150818012	A549	lung:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
12	RAD21	chr4:150817615-150818076	MCF-7	breast:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
13	CTCF	chr4:150817595-150818076	A549	lung:	n/a	chr4:150817775-150817788
14	RAD21	chr4:150817577-150818284	IMR90	lung:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
15	CTCF	chr4:150817671-150818044	MCF-7	breast:	n/a	chr4:150817775-150817788
16	RAD21	chr4:150817580-150818075	SK-N-SH	brain:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
17	CTCF	chr4:150817840-150817990	GM12870	blood:	n/a	n/a
18	CHD1	chr4:150817648-150818073	IMR90	lung:	n/a	n/a
19	RAD21	chr4:150817605-150818008	HCT-116	colon:	n/a	chr4:150817771-150817790 chr4:150817992-150818004
20	RAD21	chr4:150817622-150818023	MCF-7	breast:	n/a	chr4:150817771-150817790 chr4:150817992-150818004

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:150567133..150567704-chr4:150817712..150818389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234828	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10015292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10022183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023718	1.00[EUR][1000 genomes]
rs10023988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10030973	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032786	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10213081	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13434843	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1394846	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17026442	1.00[EUR][1000 genomes]
rs17026476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17026503	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026506	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026559	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17026577	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2359689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28390223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28461843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533652	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28545223	1.00[EUR][1000 genomes]
rs28566505	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28657505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28695593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28703191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28709180	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4594705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835596	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4835603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835606	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6824353	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6831721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72965326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73857778	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73857791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73857792	0.88[AMR][1000 genomes]
rs73859805	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7655327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7665522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7667627	0.81[AMR][1000 genomes]
rs7677933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7684559	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7690612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7692136	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9284658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991476	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9998271	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1016169	chr4:150670127-150903827	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537299	chr4:150670127-150903827	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv880254	chr4:150712923-150852782	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv880255	chr4:150777012-150874830	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150806200-150820400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:150806600-150818000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:150817600-150818000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:150817800-150818200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:150817800-150818200	Enhancers	Adipose Nuclei	Adipose

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