Variant report

Variant	rs60617294
Chromosome Location	chr17:66395506-66395507
allele	A/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	CTCF	chr17:66395186-66395519	MCF-7	breast:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
2	FOXA1	chr17:66395102-66395914	HepG2	liver:	n/a	chr17:66395717-66395729
3	RAD21	chr17:66395060-66395579	HepG2	liver:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
4	ZBTB7A	chr17:66395188-66395548	HepG2	liver:	n/a	n/a
5	CTCF	chr17:66395192-66395506	Lung_OC	lung:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
6	CTCF	chr17:66394974-66395640	HCT-116	colon:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
7	MYC	chr17:66395202-66395516	HepG2	liver:	n/a	n/a
8	GATA2	chr17:66395155-66395801	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr17:66394885-66395565	Hela-S3	cervix:	n/a	n/a
10	EP300	chr17:66395161-66395538	HepG2	liver:	n/a	n/a
11	YY1	chr17:66394917-66395510	HepG2	liver:	n/a	n/a
12	RAD21	chr17:66394956-66395641	A549	lung:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
13	RAD21	chr17:66394813-66395806	MCF-7	breast:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
14	SMC3	chr17:66395235-66395529	K562	blood:	n/a	n/a
15	RFX5	chr17:66394965-66395543	Hela-S3	cervix:	n/a	n/a
16	JUND	chr17:66395203-66395534	K562	blood:	n/a	n/a
17	CTCF	chr17:66395165-66395534	GM12878	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
18	CTCF	chr17:66395144-66395548	K562	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
19	RAD21	chr17:66395040-66395660	A549	lung:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
20	CTCF	chr17:66395208-66395521	K562	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
21	CTCF	chr17:66394928-66395530	HepG2	liver:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
22	CTCF	chr17:66395167-66395523	GM19239	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
23	EP300	chr17:66395067-66395807	HepG2	liver:	n/a	n/a
24	MYC	chr17:66395228-66395526	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr17:66394055-66395841	SK-N-SH	brain:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
26	RAD21	chr17:66394953-66395604	HepG2	liver:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
27	RAD21	chr17:66395112-66395568	GM12878	blood:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
28	CTCF	chr17:66395127-66395583	T-47D	breast:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
29	TCF12	chr17:66394938-66395681	A549	lung:	n/a	chr17:66395030-66395040
30	CTCF	chr17:66395144-66395675	K562	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
31	FOXA2	chr17:66395501-66395807	HepG2	liver:	n/a	chr17:66395717-66395729
32	CTCF	chr17:66395217-66395510	GM10266	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
33	CTCF	chr17:66394864-66395878	HCT-116	colon:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
34	SMC3	chr17:66394645-66396244	SK-N-SH	brain:	n/a	chr17:66395572-66395579 chr17:66396122-66396132
35	MAFK	chr17:66395236-66395567	K562	blood:	n/a	n/a
36	RAD21	chr17:66394875-66395718	MCF-7	breast:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
37	RAD21	chr17:66394740-66395964	HCT-116	colon:	n/a	chr17:66395922-66395934 chr17:66395358-66395377 chr17:66395361-66395374
38	CTCF	chr17:66395197-66395553	A549	lung:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
39	MYBL2	chr17:66394891-66395608	HepG2	liver:	n/a	n/a
40	MAFK	chr17:66394863-66395537	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr17:66394752-66395547	GM12878	blood:	n/a	n/a
42	RAD21	chr17:66394798-66395696	HepG2	liver:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
43	CTCF	chr17:66395144-66395530	GM12892	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
44	CTCF	chr17:66395151-66395603	K562	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
45	MAFK	chr17:66395191-66395864	HepG2	liver:	n/a	chr17:66395664-66395679
46	NFIC	chr17:66395043-66395956	HepG2	liver:	n/a	n/a
47	CTCF	chr17:66395196-66395519	GM19240	blood:	n/a	chr17:66395366-66395375 chr17:66395288-66395297
48	FOXA1	chr17:66394997-66395918	HepG2	liver:	n/a	chr17:66395717-66395729
49	RAD21	chr17:66395090-66395621	ECC-1	luminal epithelium:	n/a	chr17:66395358-66395377 chr17:66395361-66395374
50	CHD2	chr17:66395143-66395518	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66287752..66288492-chr17:66395154..66395749,2	MCF-7	breast:
2	chr17:66394951..66395958-chr17:66427646..66428503,3	MCF-7	breast:
3	chr17:66390166..66392142-chr17:66393386..66395992,2	MCF-7	breast:
4	chr17:66288381..66289224-chr17:66394826..66395892,5	MCF-7	breast:
5	chr17:66261423..66261960-chr17:66394988..66395805,2	MCF-7	breast:
6	chr17:66242538..66245252-chr17:66393478..66396830,5	MCF-7	breast:
7	chr17:66288117..66289356-chr17:66394868..66395870,6	MCF-7	breast:
8	chr17:66347110..66348214-chr17:66394961..66395659,5	MCF-7	breast:
9	chr17:66347197..66348384-chr17:66395095..66395826,7	MCF-7	breast:
10	chr17:66394860..66395978-chr17:66431794..66432829,4	MCF-7	breast:
11	chr17:66372410..66375264-chr17:66393839..66395761,3	MCF-7	breast:
12	chr17:66283412..66291453-chr17:66391949..66401713,36	MCF-7	breast:
13	chr17:66285328..66292038-chr17:66391246..66397817,23	MCF-7	breast:
14	chr17:66374850..66375719-chr17:66394941..66395691,2	MCF-7	breast:
15	chr17:66394957..66397009-chr17:66453203..66454984,2	K562	blood:
16	chr17:66393437..66396147-chr17:66461455..66462987,2	MCF-7	breast:
17	chr17:66258861..66259883-chr17:66394643..66395822,10	MCF-7	breast:
18	chr17:66259046..66259803-chr17:66395332..66395895,2	MCF-7	breast:

Variant related genes	Relation type
ARSG	TF binding region
ENSG00000070540	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000196704	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3744302	0.85[EUR][1000 genomes]
rs57197811	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60617109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60904747	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6501428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6501429	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6501430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7208111	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7211680	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7211698	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7215499	0.88[AMR][1000 genomes]
rs7222535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7342975	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8064339	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8072457	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8076774	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8078085	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv3339150	chr17:66392257-66396455	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:66391400-66397600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:66392000-66398000	Enhancers	Fetal Thymus	thymus
4	chr17:66392400-66396000	Enhancers	Adipose Nuclei	Adipose
5	chr17:66392600-66397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:66392600-66397600	Enhancers	Thymus	Thymus
7	chr17:66392800-66397000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:66392800-66397200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:66393000-66396000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:66393000-66397000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr17:66393000-66397200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr17:66393600-66398400	Weak transcription	Right Atrium	heart
13	chr17:66394200-66397200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:66394400-66395600	Enhancers	Liver	Liver
15	chr17:66394400-66396600	Enhancers	Primary T cells from cord blood	blood
16	chr17:66394400-66396800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr17:66394400-66397400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr17:66394400-66397600	Enhancers	HepG2	liver
19	chr17:66394400-66397800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:66394600-66395600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr17:66394600-66395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:66394800-66395600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:66394800-66395600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:66394800-66395600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:66394800-66395600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:66394800-66395600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:66394800-66395600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:66394800-66395600	Enhancers	Brain Angular Gyrus	brain
29	chr17:66394800-66395600	Enhancers	Fetal Lung	lung
30	chr17:66394800-66395600	Enhancers	NHDF-Ad	bronchial
31	chr17:66394800-66396000	Enhancers	Fetal Kidney	kidney
32	chr17:66394800-66396200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:66394800-66396200	Enhancers	Spleen	Spleen
34	chr17:66394800-66396400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:66394800-66396400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:66394800-66396400	Enhancers	Placenta	Placenta
37	chr17:66394800-66396600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:66394800-66396600	Enhancers	HUVEC	blood vessel
39	chr17:66394800-66396800	Enhancers	Fetal Muscle Leg	muscle
40	chr17:66394800-66396800	Enhancers	Fetal Stomach	stomach
41	chr17:66394800-66396800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:66394800-66396800	Enhancers	HSMM	muscle
43	chr17:66394800-66396800	Enhancers	NHLF	lung
44	chr17:66394800-66397000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:66394800-66397000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr17:66394800-66397000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr17:66394800-66397200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr17:66394800-66397400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:66394800-66397800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:66395000-66395600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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