Variant report

Variant	rs10912616
Chromosome Location	chr1:171195958-171195959
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	ZNF143	chr1:171195896-171196261	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr1:171195919-171196264	HepG2	liver:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
3	CTCF	chr1:171195713-171196364	HCT-116	colon:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
4	RAD21	chr1:171195847-171196335	HepG2	liver:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
5	CTCF	chr1:171195940-171196286	K562	blood:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
6	RAD21	chr1:171195840-171196320	ECC-1	luminal epithelium:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
7	SMC3	chr1:171195937-171196255	K562	blood:	n/a	chr1:171196095-171196109
8	CTCF	chr1:171195723-171196573	SK-N-SH	brain:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
9	RAD21	chr1:171195707-171196513	SK-N-SH	brain:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
10	MAZ	chr1:171195943-171196211	GM12878	blood:	n/a	n/a
11	CTCF	chr1:171195954-171196258	Medullo	brain:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
12	RAD21	chr1:171195702-171196353	MCF-7	breast:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
13	RAD21	chr1:171195870-171196316	IMR90	lung:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
14	RAD21	chr1:171195868-171196241	GM12878	blood:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
15	SMC3	chr1:171195736-171196269	GM12878	blood:	n/a	chr1:171196095-171196109
16	CTCF	chr1:171195956-171196260	MCF-7	breast:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
17	CTCF	chr1:171195777-171196314	A549	lung:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
18	RAD21	chr1:171195929-171196244	A549	lung:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
19	CTCF	chr1:171195917-171196176	HepG2	liver:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
20	RAD21	chr1:171195892-171196334	GM12878	blood:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
21	CTCF	chr1:171195902-171196223	K562	blood:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
22	ZNF143	chr1:171195890-171196279	GM12878	blood:	n/a	n/a
23	CTCF	chr1:171195860-171196395	MCF-7	breast:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
24	CTCF	chr1:171195922-171196174	A549	lung:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
25	JUN	chr1:171195948-171196236	H1-hESC	embryonic stem cell:	n/a	n/a
26	GATA3	chr1:171195885-171196200	T-47D	breast:	n/a	n/a
27	SMC3	chr1:171195903-171196279	HepG2	liver:	n/a	chr1:171196095-171196109
28	RAD21	chr1:171195773-171196435	HCT-116	colon:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
29	RAD21	chr1:171195895-171196214	SK-N-SH_RA	brain:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
30	RAD21	chr1:171195832-171196350	A549	lung:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
31	CTCF	chr1:171195825-171196328	A549	lung:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
32	RAD21	chr1:171195844-171196265	ECC-1	luminal epithelium:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
33	CTCF	chr1:171195892-171196257	SK-N-SH_RA	brain:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
34	MAFF	chr1:171195951-171196122	HepG2	liver:	n/a	n/a
35	CTCF	chr1:171195870-171196307	GM12878	blood:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
36	CTCF	chr1:171195860-171196380	MCF-7	breast:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
37	CTCF	chr1:171195951-171196250	Gliobla	brain:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
38	CTCF	chr1:171195860-171196010	WI-38	lung:	n/a	n/a
39	MAFK	chr1:171195951-171196224	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:171195940-171196090	GM12872	blood:	n/a	n/a
41	RAD21	chr1:171195904-171196277	MCF-7	breast:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
42	SMC3	chr1:171195905-171196283	Hela-S3	cervix:	n/a	chr1:171196095-171196109
43	CTCF	chr1:171195854-171196295	T-47D	breast:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
44	RAD21	chr1:171195766-171196291	H1-hESC	embryonic stem cell:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
45	RAD21	chr1:171195875-171196282	A549	lung:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
46	FOXA1	chr1:171195876-171196252	T-47D	breast:	n/a	n/a
47	RAD21	chr1:171195954-171196226	K562	blood:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
48	CTCF	chr1:171195889-171196231	H1-hESC	embryonic stem cell:	n/a	chr1:171196100-171196107 chr1:171196088-171196109
49	RAD21	chr1:171195785-171196370	HCT-116	colon:	n/a	chr1:171196091-171196110 chr1:171196100-171196109
50	RAD21	chr1:171195882-171196272	GM12878	blood:	n/a	chr1:171196091-171196110 chr1:171196100-171196109

No.	Distal block	Cell Line	Cell type
1	chr1:171050311..171050975-chr1:171195652..171196489,2	MCF-7	breast:
2	chr1:171195796..171196545-chr1:171282426..171283362,2	MCF-7	breast:
3	chr1:171050144..171051119-chr1:171195616..171196435,6	MCF-7	breast:
4	chr1:170935633..170937000-chr1:171195928..171196554,4	MCF-7	breast:
5	chr1:170935902..170936885-chr1:171195525..171196580,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225243	TF binding region
ENSG00000076258	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12065544	0.97[ASN][1000 genomes]
rs12402732	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403890	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12720462	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16864174	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16864177	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16864194	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16864216	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987921	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1987944	1.00[ASN][1000 genomes]
rs2020863	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2049920	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064077	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2072755	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075988	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2103537	0.82[ASN][1000 genomes]
rs2179106	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369891	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28369914	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3861947	0.97[ASN][1000 genomes]
rs4073692	0.84[ASN][1000 genomes]
rs4073693	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4622096	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4631734	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56370691	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57305992	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815363	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61815421	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815423	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815424	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815425	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815427	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714167	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535210	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7551934	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171191400-171197200	Weak transcription	Fetal Kidney	kidney
2	chr1:171194200-171200400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:171195400-171196000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:171195600-171196000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:171195600-171196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171195600-171196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:171195600-171196000	Enhancers	Fetal Lung	lung

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