Variant report

Variant	rs4646615
Chromosome Location	chr15:58261595-58261596
allele	G/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	RAD21	chr15:58261522-58262020	A549	lung:	n/a	chr15:58261739-58261758
2	MYC	chr15:58261567-58261819	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr15:58261516-58261902	H1-hESC	embryonic stem cell:	n/a	chr15:58261739-58261758
4	RAD21	chr15:58261574-58261941	H1-hESC	embryonic stem cell:	n/a	chr15:58261739-58261758
5	CTCF	chr15:58261576-58261906	K562	blood:	n/a	chr15:58261738-58261756
6	CTCF	chr15:58261575-58261939	MCF-7	breast:	n/a	chr15:58261738-58261756
7	RAD21	chr15:58261574-58261980	ECC-1	luminal epithelium:	n/a	chr15:58261739-58261758
8	CTCF	chr15:58261580-58261730	GM06990	blood:	n/a	n/a
9	POLR2A	chr15:58255933-58266423	K562	blood:	n/a	n/a
10	RAD21	chr15:58261586-58261924	Hela-S3	cervix:	n/a	chr15:58261739-58261758
11	RAD21	chr15:58261570-58262047	HCT-116	colon:	n/a	chr15:58261739-58261758
12	CTCF	chr15:58261591-58261892	GM12878	blood:	n/a	chr15:58261738-58261756
13	CTCF	chr15:58261540-58261690	A549	lung:	n/a	n/a
14	RAD21	chr15:58261561-58261968	HepG2	liver:	n/a	chr15:58261739-58261758
15	RAD21	chr15:58261592-58262016	MCF-7	breast:	n/a	chr15:58261739-58261758
16	RAD21	chr15:58261549-58261870	SK-N-SH_RA	brain:	n/a	chr15:58261739-58261758
17	CTCF	chr15:58261580-58261730	GM12872	blood:	n/a	n/a
18	RAD21	chr15:58261353-58262079	SK-N-SH	brain:	n/a	chr15:58261510-58261517 chr15:58261739-58261758

No.	Distal block	Cell Line	Cell type
1	chr15:58261336..58261843-chr15:58474684..58475338,2	K562	blood:
2	chr15:58260270..58262441-chr15:58476385..58479078,2	K562	blood:
3	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
4	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
5	chr15:58261244..58261767-chr15:58513997..58514512,2	K562	blood:
6	chr15:58260833..58263956-chr15:58356414..58359716,3	K562	blood:
7	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
8	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction
ENSG00000259285	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10851630	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10851631	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11071356	0.81[ASN][1000 genomes]
rs11071365	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11630835	0.83[ASN][1000 genomes]
rs11855259	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12148093	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12148907	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12594082	0.87[YRI][hapmap]
rs12901462	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12903474	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12903551	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12903792	0.96[ASN][1000 genomes]
rs12907038	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12907125	0.81[YRI][hapmap]
rs12908953	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12910113	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12915901	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1822205	0.83[YRI][hapmap]
rs2414527	0.87[YRI][hapmap]
rs3204689	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs35511675	0.83[ASN][1000 genomes]
rs3784257	0.91[YRI][hapmap]
rs3784259	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs3784260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3784262	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs3784263	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.91[ASN][1000 genomes]
rs4144005	0.81[YRI][hapmap]
rs4238326	0.91[JPT][hapmap]
rs4646568	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4646572	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4646576	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4646579	0.80[YRI][hapmap]
rs4646580	0.82[YRI][hapmap]
rs4646611	0.84[ASN][1000 genomes]
rs4646612	0.84[ASN][1000 genomes]
rs4646616	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.96[ASN][1000 genomes]
rs4646619	0.81[ASN][1000 genomes]
rs4646620	0.91[ASN][1000 genomes]
rs4646622	0.81[ASN][1000 genomes]
rs4646625	0.87[YRI][hapmap]
rs4646626	0.87[YRI][hapmap]
rs4646636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646638	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646640	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6493977	0.83[YRI][hapmap]
rs7164408	0.85[ASN][1000 genomes]
rs7165247	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7170896	0.88[ASN][1000 genomes]
rs7178598	0.83[YRI][hapmap]
rs7180059	0.81[YRI][hapmap]
rs7495968	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8031133	0.84[ASN][1000 genomes]
rs9325	1.00[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv569593	chr15:58201698-58308650	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv904256	chr15:58253269-58274229	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904257	chr15:58253894-58281035	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904258	chr15:58255305-58281035	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv904259	chr15:58256296-58274229	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv904260	chr15:58257123-58276747	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv904261	chr15:58258424-58347260	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58248800-58262400	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:58253800-58271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:58253800-58284800	Weak transcription	Ovary	ovary
4	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
5	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
6	chr15:58260400-58272000	Weak transcription	Fetal Kidney	kidney
7	chr15:58261200-58262800	Strong transcription	K562	blood

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