Variant report

Variant	rs1924295
Chromosome Location	chr13:38177273-38177274
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	RAD21	chr13:38176883-38177327	MCF-7	breast:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
2	RAD21	chr13:38176915-38177299	A549	lung:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
3	RAD21	chr13:38176950-38177290	HepG2	liver:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
4	RAD21	chr13:38176846-38177302	H1-hESC	embryonic stem cell:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
5	RAD21	chr13:38176609-38177470	SK-N-SH	brain:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
6	SMC3	chr13:38176847-38177309	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr13:38176807-38177315	MCF-7	breast:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
8	RAD21	chr13:38176859-38177336	ECC-1	luminal epithelium:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
9	RAD21	chr13:38176806-38177308	SK-N-SH_RA	brain:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
10	CTCF	chr13:38177180-38177330	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr13:38176901-38177273	MCF-7	breast:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
12	CTCF	chr13:38176714-38177576	SK-N-SH	brain:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
13	CTCF	chr13:38176642-38177370	IMR90	lung:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
14	RAD21	chr13:38176873-38177325	H1-hESC	embryonic stem cell:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
15	CTCF	chr13:38177140-38177290	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr13:38177013-38177307	A549	lung:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
17	CTCF	chr13:38176905-38177287	H1-hESC	embryonic stem cell:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
18	CTCF	chr13:38177140-38177290	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr13:38176770-38177450	A549	lung:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
20	SMC3	chr13:38176172-38177546	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr13:38176911-38177355	GM12878	blood:	n/a	chr13:38177104-38177125 chr13:38177109-38177127
22	RAD21	chr13:38176849-38177296	HCT-116	colon:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
23	RAD21	chr13:38176877-38177518	Hela-S3	cervix:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
24	CTCF	chr13:38177180-38177330	SAEC	small airway:	n/a	n/a
25	RAD21	chr13:38176835-38177310	ECC-1	luminal epithelium:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
26	RAD21	chr13:38176909-38177297	A549	lung:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
27	RAD21	chr13:38176373-38177501	IMR90	lung:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126
28	RAD21	chr13:38176852-38177332	HepG2	liver:	n/a	chr13:38177117-38177124 chr13:38177115-38177127 chr13:38177107-38177126

No.	Distal block	Cell Line	Cell type
1	chr13:37648642..37649599-chr13:38176615..38177587,4	MCF-7	breast:
2	chr13:37712196..37712977-chr13:38176969..38177470,2	MCF-7	breast:
3	chr13:37683205..37683899-chr13:38176989..38177531,2	K562	blood:
4	chr13:37685335..37685914-chr13:38176743..38177499,2	MCF-7	breast:
5	chr13:37682944..37683803-chr13:38176643..38177587,6	MCF-7	breast:

Variant related genes	Relation type
POSTN	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17056196	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197978	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199299	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199750	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17201866	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17257154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257328	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17261242	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1924299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924302	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1951895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306668	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512969	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628831	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61532724	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73182620	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73182622	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182624	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182687	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182690	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184525	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184528	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184531	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184532	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184534	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184537	0.82[EUR][1000 genomes]
rs73186506	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73186523	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73186543	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73186546	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7338811	0.92[AMR][1000 genomes];0.95[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr13:38165800-38182400	Weak transcription	Placenta	Placenta
2	chr13:38175800-38177400	Enhancers	Osteobl	bone
3	chr13:38176400-38180400	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:38176800-38181800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:38177000-38177400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:38177000-38183200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:38177000-38190400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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