Variant report

Variant	rs28615897
Chromosome Location	chr17:17291708-17291709
allele	C/G
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	chr17:17291318-17291742	ECC-1	luminal epithelium:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
2	CTCF	chr17:17291438-17291750	H1-hESC	embryonic stem cell:	n/a	chr17:17291610-17291619
3	CTCF	chr17:17291251-17291916	HCT-116	colon:	n/a	chr17:17291610-17291619
4	CTCF	chr17:17291560-17291710	NB4	blood:	n/a	chr17:17291610-17291619
5	RAD21	chr17:17291393-17291744	HepG2	liver:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
6	RAD21	chr17:17291389-17291762	H1-hESC	embryonic stem cell:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
7	CREB1	chr17:17291333-17291805	A549	lung:	n/a	n/a
8	CTCF	chr17:17291375-17291951	K562	blood:	n/a	chr17:17291610-17291619
9	CTCF	chr17:17291239-17291978	MCF-7	breast:	n/a	chr17:17291610-17291619
10	CREB1	chr17:17291364-17291814	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:17291620-17291770	AG04450	lung:	n/a	n/a
12	HDAC2	chr17:17291183-17291779	MCF-7	breast:	n/a	n/a
13	MYBL2	chr17:17291421-17291761	HepG2	liver:	n/a	n/a
14	CTCF	chr17:17291376-17291830	K562	blood:	n/a	chr17:17291610-17291619
15	CTCF	chr17:17291406-17291728	A549	lung:	n/a	chr17:17291610-17291619
16	RAD21	chr17:17291424-17291737	ECC-1	luminal epithelium:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
17	CTCF	chr17:17291426-17291757	MCF-7	breast:	n/a	chr17:17291610-17291619
18	CTCF	chr17:17291640-17291790	BE2_C	brain:	n/a	n/a
19	CTCF	chr17:17291402-17291828	HepG2	liver:	n/a	chr17:17291610-17291619
20	CTCF	chr17:17291416-17291752	Pancreas_OC	pancreas:	n/a	chr17:17291610-17291619
21	CTCF	chr17:17291379-17291789	T-47D	breast:	n/a	chr17:17291610-17291619
22	ELF1	chr17:17291251-17291831	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:17291390-17291769	K562	blood:	n/a	chr17:17291610-17291619
24	CTCF	chr17:17291432-17291746	MCF-7	breast:	n/a	chr17:17291610-17291619
25	CREB1	chr17:17291376-17291843	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr17:17291560-17291710	GM12869	blood:	n/a	chr17:17291610-17291619
27	ZNF143	chr17:17291446-17291749	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:17291313-17291836	H1-hESC	embryonic stem cell:	n/a	chr17:17291610-17291619
29	CTCF	chr17:17291167-17291987	A549	lung:	n/a	chr17:17291610-17291619
30	TCF12	chr17:17291434-17291717	H1-hESC	embryonic stem cell:	n/a	n/a
31	SMC3	chr17:17291444-17291725	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr17:17291391-17291768	HepG2	liver:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
33	HDAC2	chr17:17291411-17291812	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:17291382-17291736	HCT-116	colon:	n/a	n/a
35	CTCF	chr17:17291420-17291763	NHEK	skin:	n/a	chr17:17291610-17291619
36	CTCF	chr17:17291600-17291750	AG09309	skin:	n/a	chr17:17291610-17291619
37	RAD21	chr17:17291274-17291803	MCF-7	breast:	n/a	chr17:17291761-17291775 chr17:17291440-17291454 chr17:17291544-17291557
38	CTCF	chr17:17291389-17291769	T-47D	breast:	n/a	chr17:17291610-17291619
39	RAD21	chr17:17291327-17291836	H1-hESC	embryonic stem cell:	n/a	chr17:17291761-17291775 chr17:17291440-17291454 chr17:17291544-17291557
40	CTCF	chr17:17291414-17291777	MCF-7	breast:	n/a	chr17:17291610-17291619
41	CTCF	chr17:17291330-17291768	ECC-1	luminal epithelium:	n/a	chr17:17291610-17291619
42	CTCF	chr17:17291640-17291790	GM12870	blood:	n/a	n/a
43	RAD21	chr17:17291423-17291722	A549	lung:	n/a	chr17:17291440-17291454 chr17:17291544-17291557
44	CTCF	chr17:17291300-17291807	A549	lung:	n/a	chr17:17291610-17291619
45	MAX	chr17:17291313-17291891	MCF-7	breast:	n/a	n/a
46	CTCF	chr17:17291352-17291902	MCF-7	breast:	n/a	chr17:17291610-17291619
47	SIN3A	chr17:17291423-17291736	H1-hESC	embryonic stem cell:	n/a	chr17:17291438-17291447
48	TEAD4	chr17:17291468-17291825	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr17:17291227-17291902	MCF-7	breast:	n/a	chr17:17291761-17291775 chr17:17291440-17291454 chr17:17291544-17291557
50	RAD21	chr17:17291362-17291742	H1-hESC	embryonic stem cell:	n/a	chr17:17291440-17291454 chr17:17291544-17291557

No.	Distal block	Cell Line	Cell type
1	chr17:17258537..17261520-chr17:17290146..17293123,2	MCF-7	breast:
2	chr17:17291138..17292058-chr17:17343026..17343970,5	MCF-7	breast:
3	chr17:17278849..17281558-chr17:17290486..17292840,2	K562	blood:
4	chr17:17290388..17293287-chr17:17293294..17295342,3	MCF-7	breast:
5	chr17:17291529..17292031-chr2:171321617..171322457,2	MCF-7	breast:
6	chr17:17291335..17291987-chr17:17399782..17400706,3	MCF-7	breast:
7	chr17:17290050..17292751-chr17:17397207..17401029,5	MCF-7	breast:
8	chr17:17290703..17292981-chr17:17343527..17346178,2	MCF-7	breast:
9	chr17:17290560..17292342-chr17:17378041..17380234,2	MCF-7	breast:
10	chr17:17258751..17260211-chr17:17291478..17292805,6	MCF-7	breast:
11	chr17:17290573..17292126-chr17:17346940..17348569,2	MCF-7	breast:
12	chr17:17289655..17293959-chr17:17349314..17352438,5	MCF-7	breast:
13	chr17:17291141..17292010-chr17:17399819..17400387,2	MCF-7	breast:
14	chr17:17290815..17292388-chr17:17395387..17396915,2	MCF-7	breast:
15	chr17:17291681..17293275-chr17:17315308..17316852,2	MCF-7	breast:

Variant related genes	Relation type
RPL13P12	TF binding region
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28386962	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28694472	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502590	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216428	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216582	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222345	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223785	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286451	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286465	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286467	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069248	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069439	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8070596	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891303	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17287600-17292400	Enhancers	Fetal Muscle Leg	muscle
2	chr17:17287600-17292600	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:17289000-17291800	Enhancers	Fetal Intestine Small	intestine
4	chr17:17289000-17292000	Enhancers	Fetal Intestine Large	intestine
5	chr17:17289200-17292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:17289600-17292000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:17289800-17292000	Enhancers	HMEC	breast
8	chr17:17289800-17293400	Weak transcription	Dnd41	blood
9	chr17:17290000-17292000	Enhancers	Spleen	Spleen
10	chr17:17290000-17292200	Enhancers	Pancreas	Pancrea
11	chr17:17290000-17292400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr17:17290600-17291800	Enhancers	GM12878-XiMat	blood
13	chr17:17290600-17292000	Weak transcription	Brain Germinal Matrix	brain
14	chr17:17290600-17292000	Enhancers	Fetal Thymus	thymus
15	chr17:17290800-17291800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:17291000-17291800	Enhancers	Left Ventricle	heart
17	chr17:17291000-17292000	Enhancers	Placenta	Placenta
18	chr17:17291000-17292200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:17291000-17292200	Enhancers	Fetal Stomach	stomach
20	chr17:17291000-17292400	Enhancers	Right Ventricle	heart
21	chr17:17291200-17291800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:17291200-17291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:17291200-17291800	Enhancers	Fetal Lung	lung
24	chr17:17291200-17291800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr17:17291200-17292600	Enhancers	Adipose Nuclei	Adipose
26	chr17:17291400-17292000	Enhancers	Right Atrium	heart
27	chr17:17291400-17292800	Weak transcription	Gastric	stomach
28	chr17:17291600-17291800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17291600-17291800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr17:17291600-17291800	Flanking Active TSS	HepG2	liver

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