Variant report

Variant	rs61803112
Chromosome Location	chr1:153372896-153372897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:153372804-153373112	K562	blood:	n/a	n/a
2	JUND	chr1:153372882-153373011	K562	blood:	n/a	n/a
3	RCOR1	chr1:153372844-153373060	K562	blood:	n/a	n/a
4	CTCF	chr1:153372889-153373045	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr1:153372840-153372990	SAEC	small airway:	n/a	n/a
6	CTCF	chr1:153372787-153373150	K562	blood:	n/a	n/a
7	CTCF	chr1:153372860-153373010	BJ	skin:	n/a	n/a
8	RAD21	chr1:153372842-153373045	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr1:153372881-153373018	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:153372840-153372990	HPF	lung:	n/a	n/a
11	RAD21	chr1:153372859-153373093	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr1:153372855-153373035	SK-N-SH_RA	brain:	n/a	n/a
13	RAD21	chr1:153372844-153373049	K562	blood:	n/a	n/a
14	CTCF	chr1:153372844-153373089	HepG2	liver:	n/a	n/a
15	CTCF	chr1:153372792-153373053	K562	blood:	n/a	n/a
16	CTCF	chr1:153372860-153373010	GM12864	blood:	n/a	n/a
17	SMC3	chr1:153372822-153373070	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr1:153372860-153373010	HBMEC	blood vessel:	n/a	n/a
19	RAD21	chr1:153372847-153373150	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:153372890-153373038	GM19238	blood:	n/a	n/a
21	CTCF	chr1:153372840-153372990	HRPEpiC	eye:	n/a	n/a
22	RAD21	chr1:153372743-153373249	A549	lung:	n/a	n/a
23	CTCF	chr1:153372879-153373064	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:153372860-153373010	AG04449	skin:	n/a	n/a
25	CTCF	chr1:153372854-153373077	K562	blood:	n/a	n/a
26	CTCF	chr1:153372750-153373092	K562	blood:	n/a	n/a
27	CTCF	chr1:153372853-153373039	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:153372820-153372970	GM12874	blood:	n/a	n/a
29	RAD21	chr1:153372845-153373047	GM12878	blood:	n/a	n/a
30	CTCF	chr1:153372880-153373030	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr1:153372780-153372930	A549	lung:	n/a	n/a
32	CTCF	chr1:153372868-153373052	NHEK	skin:	n/a	n/a
33	CTCF	chr1:153372860-153373010	GM12865	blood:	n/a	n/a
34	RAD21	chr1:153372874-153373131	IMR90	lung:	n/a	n/a
35	CTCF	chr1:153372780-153372930	AG04450	lung:	n/a	n/a
36	CTCF	chr1:153372775-153373176	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:153372880-153373030	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr1:153372874-153373018	MCF-7	breast:	n/a	n/a
39	EBF1	chr1:153372777-153373090	GM12878	blood:	n/a	chr1:153372923-153372932 chr1:153372923-153372932 chr1:153372922-153372933 chr1:153372922-153372932 chr1:153372921-153372934
40	CTCF	chr1:153372896-153373029	MCF-7	breast:	n/a	n/a
41	RAD21	chr1:153372798-153373258	HCT-116	colon:	n/a	n/a
42	CTCF	chr1:153372840-153372990	BE2_C	brain:	n/a	n/a
43	CTCF	chr1:153372860-153373010	HMEC	breast:	n/a	n/a
44	CTCF	chr1:153372890-153373035	GM12892	blood:	n/a	n/a
45	CTCF	chr1:153372840-153372990	HFF-Myc	foreskin:	n/a	n/a
46	EBF1	chr1:153372849-153373046	GM12878	blood:	n/a	chr1:153372923-153372932 chr1:153372923-153372932 chr1:153372922-153372933 chr1:153372922-153372932 chr1:153372921-153372934
47	CTCF	chr1:153372865-153373037	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:153372860-153373010	HCM	heart:	n/a	n/a
49	SMC3	chr1:153372821-153373123	K562	blood:	n/a	n/a
50	RAD21	chr1:153372767-153373229	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
2	chr1:153372484..153374932-chr1:153375624..153379394,3	MCF-7	breast:
3	chr1:153371450..153373306-chr1:153462974..153465949,3	MCF-7	breast:
4	chr1:153324857..153325877-chr1:153372541..153373354,3	MCF-7	breast:
5	chr1:153372721..153373690-chr1:153438049..153438638,2	MCF-7	breast:
6	chr1:153372591..153373475-chr1:153467006..153467975,2	MCF-7	breast:
7	chr1:153327683..153328546-chr1:153372710..153373428,3	MCF-7	breast:
8	chr1:153372472..153373407-chr1:153467323..153468103,2	MCF-7	breast:
9	chr1:153327801..153328677-chr1:153372451..153373073,2	MCF-7	breast:
10	chr1:153372875..153373458-chr1:153467145..153468018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224784	TF binding region
ENSG00000163220	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs11205279	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205280	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205281	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205282	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205283	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205284	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205285	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205286	0.84[ASN][1000 genomes]
rs11205288	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11205290	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205291	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205292	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205293	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11578443	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11579041	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11580424	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11580467	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11580993	0.86[EUR][1000 genomes]
rs11583949	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11590633	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029448	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12035710	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12040625	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12040887	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12042217	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044231	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12047833	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148318	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916191	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916192	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916194	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916201	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916215	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916216	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916217	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916218	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916221	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2916222	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006475	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006476	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006477	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3006479	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006480	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006482	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006483	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006485	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006488	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3014807	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3014812	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3014878	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014879	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014880	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014881	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014885	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34944646	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795391	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806232	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41264640	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4355996	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4772	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845346	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845347	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4845541	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845543	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57572338	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58127527	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58644524	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59655855	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59678238	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60752752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61803108	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61803109	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61803110	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61803111	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803337	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61803338	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61803339	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61803340	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6659104	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673905	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680386	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686657	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697489	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702735	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73018470	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9793023	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9793935	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153367200-153374800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153368200-153374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:153368600-153377600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:153371200-153374000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:153371600-153373000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:153372200-153373000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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