Variant report

Variant	rs71594798
Chromosome Location	chr5:178266184-178266185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:178266002-178266694	K562	blood:	n/a	n/a
2	CTCF	chr5:178266080-178266230	SAEC	small airway:	n/a	chr5:178266135-178266151
3	CTCF	chr5:178266103-178266213	MCF-7	breast:	n/a	chr5:178266135-178266151
4	ATF1	chr5:178265901-178266202	K562	blood:	n/a	n/a
5	RAD21	chr5:178266162-178266817	HCT-116	colon:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
6	NR2F2	chr5:178266018-178266755	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:178266088-178266342	MCF-7	breast:	n/a	chr5:178266135-178266151
8	JUND	chr5:178265912-178266614	K562	blood:	n/a	n/a
9	RAD21	chr5:178266131-178266806	MCF-7	breast:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
10	CTCF	chr5:178266085-178266366	MCF-7	breast:	n/a	chr5:178266135-178266151
11	NR2F2	chr5:178265879-178266668	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:178266060-178266210	HPAF	blood vessel:	n/a	chr5:178266135-178266151
13	HDAC2	chr5:178265989-178266734	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:178266080-178266230	HCFaa	heart:	n/a	chr5:178266135-178266151
15	GATA3	chr5:178265881-178266795	MCF-7	breast:	n/a	n/a
16	MAX	chr5:178266088-178266702	MCF-7	breast:	n/a	n/a
17	TCF12	chr5:178265980-178266934	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:178266040-178266190	SAEC	small airway:	n/a	chr5:178266135-178266151
19	CTCF	chr5:178266042-178266367	MCF-7	breast:	n/a	chr5:178266135-178266151
20	CTCF	chr5:178266031-178266857	MCF-7	breast:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151
21	CTCF	chr5:178266073-178266330	MCF-7	breast:	n/a	chr5:178266135-178266151
22	CTCF	chr5:178266039-178266750	K562	blood:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151
23	MYC	chr5:178266105-178266681	K562	blood:	n/a	n/a
24	GATA3	chr5:178265870-178266766	MCF-7	breast:	n/a	n/a
25	HDAC2	chr5:178266182-178266664	MCF-7	breast:	n/a	n/a
26	GATA3	chr5:178266144-178266648	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:178266079-178266195	K562	blood:	n/a	chr5:178266135-178266151

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178266137-178266187	HCPEpiC	choroid plexus:	n/a
2	chr5:178266175-178266225	RPTEC	kidney:	n/a
3	chr5:178266137-178266187	Caco-2	colon:	n/a
4	chr5:178266137-178266187	SAEC	small airway:	n/a
5	chr5:178266137-178266187	SK-N-MC	brain:	n/a
6	chr5:178266137-178266187	ovcar-3	ovarian:	n/a
7	chr5:178266137-178266187	CMK	blood:	n/a
8	chr5:178266175-178266225	AG09319	gingival:	n/a
9	chr5:178266137-178266187	HRE	kidney:	n/a
10	chr5:178266137-178266187	NH-A	brain:	n/a
11	chr5:178266175-178266225	HCM	heart:	n/a
12	chr5:178266175-178266225	SAEC	small airway:	n/a
13	chr5:178266137-178266187	HRPEpiC	eye:	n/a
14	chr5:178266137-178266187	Hela-S3	cervix:	n/a
15	chr5:178266175-178266225	HEK293	kidney:	embryo
16	chr5:178266137-178266187	HCF	heart:	n/a
17	chr5:178266137-178266187	IMR90	lung:	fetal
18	chr5:178266175-178266225	AoSMC	blood vessel:	n/a
19	chr5:178266175-178266225	HepG2	liver:	n/a
20	chr5:178266175-178266225	CMK	blood:	n/a
21	chr5:178266175-178266225	U87	brain:	n/a
22	chr5:178266137-178266187	HUVEC	blood vessel:	n/a
23	chr5:178266175-178266225	Hepatocyte	liver:	n/a
24	chr5:178266175-178266225	NB4	blood:	n/a
25	chr5:178266175-178266225	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:178266175-178266225	NH-A	brain:	n/a
27	chr5:178266175-178266225	GM06990	blood:	n/a
28	chr5:178266137-178266187	PrEC	prostate:	n/a
29	chr5:178266175-178266225	H1-hESC	embryonic stem cell:	embryo
30	chr5:178266175-178266225	NHBE	bronchial:	n/a
31	chr5:178266175-178266225	NHDF-neo	bronchial:	n/a
32	chr5:178266137-178266187	HMEC	breast:	n/a
33	chr5:178266137-178266187	MCF10A-Er-Src	breast:	n/a
34	chr5:178266175-178266225	AG04449	skin:	fetal
35	chr5:178266137-178266187	AG04450	lung:	fetal
36	chr5:178266175-178266225	GM12891	blood:	n/a
37	chr5:178266175-178266225	SKMC	muscle:	n/a
38	chr5:178266175-178266225	T-47D	breast:	n/a
39	chr5:178266175-178266225	HL-60	blood:	n/a
40	chr5:178266175-178266225	LNCaP	prostate:	n/a
41	chr5:178266137-178266187	GM12878	blood:	n/a
42	chr5:178266175-178266225	HRPEpiC	eye:	n/a
43	chr5:178266175-178266225	SK-N-SH	brain:	n/a
44	chr5:178266175-178266225	AG10803	skin:	n/a
45	chr5:178266137-178266187	NHBE	bronchial:	n/a
46	chr5:178266137-178266187	A549	lung:	n/a
47	chr5:178266175-178266225	PrEC	prostate:	n/a
48	chr5:178266137-178266187	HAEpiC	amniotic membrane:	n/a
49	chr5:178266175-178266225	Caco-2	colon:	n/a
50	chr5:178266175-178266225	SK-N-SH_RA	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178157367..178158168-chr5:178266123..178266937,3	MCF-7	breast:
2	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:
3	chr5:178157414..178158390-chr5:178265741..178266981,10	MCF-7	breast:
4	chr5:178214124..178214763-chr5:178265905..178266637,2	MCF-7	breast:
5	chr5:178264186..178266313-chr5:178270488..178273068,2	MCF-7	breast:
6	chr5:178050940..178053910-chr5:178263858..178266243,2	MCF-7	breast:
7	chr5:178219826..178220832-chr5:178266011..178266987,10	MCF-7	breast:
8	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
9	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
10	chr5:178219935..178220578-chr5:178266097..178266710,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253725	TF binding region
ENSG00000253725	CpG island
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10903231	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10903232	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10903233	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249580	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11249581	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249582	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249583	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249584	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249589	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249590	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249591	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249592	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249593	0.84[ASN][1000 genomes]
rs11738631	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739648	0.83[ASN][1000 genomes]
rs11741533	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741619	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11743902	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747490	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11749468	0.81[ASN][1000 genomes]
rs11750068	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11750817	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11952175	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952214	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952453	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054925	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054934	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055051	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055057	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152723	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153004	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153245	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155906	0.80[ASN][1000 genomes]
rs13160205	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162024	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163348	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13163995	0.83[ASN][1000 genomes]
rs13165291	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13165500	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13166454	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13171941	0.81[ASN][1000 genomes]
rs13173488	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173515	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13174478	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174626	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13174654	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13177176	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177181	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179543	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13179553	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13181764	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183235	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13183254	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13183856	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13184377	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184665	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13187283	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28397824	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28786208	0.83[ASN][1000 genomes]
rs34025705	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34030500	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34124262	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325875	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34671298	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34720930	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751264	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34788472	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34798599	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35070400	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35190196	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316460	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35429406	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35714569	0.83[ASN][1000 genomes]
rs35721293	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35854619	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35869133	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35886217	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55641255	0.87[ASN][1000 genomes]
rs55668789	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55773401	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62393027	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62393028	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66505308	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67009518	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67665237	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67741599	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67875835	0.83[ASN][1000 genomes]
rs71594792	0.85[ASN][1000 genomes]
rs71594793	0.85[ASN][1000 genomes]
rs71611464	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71611465	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71611466	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71611468	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71611469	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72814640	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72814653	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72814655	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72814656	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72814671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442757	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708433	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7722023	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv968861	chr5:178251700-178275142	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178263600-178286400	Weak transcription	Right Atrium	heart
2	chr5:178265200-178266400	Enhancers	Placenta	Placenta
3	chr5:178266000-178266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:178266000-178266400	Active TSS	K562	blood
5	chr5:178266000-178266600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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