Variant report

Variant	rs256961
Chromosome Location	chr5:114884911-114884912
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	chr5:114884856-114885222	HepG2	liver:	n/a	n/a
2	CTCF	chr5:114884900-114885050	GM12867	blood:	n/a	n/a
3	ELF1	chr5:114884899-114885187	HepG2	liver:	n/a	chr5:114885120-114885131 chr5:114885121-114885130 chr5:114884989-114885000 chr5:114885120-114885131
4	SPI1	chr5:114884902-114885244	GM12891	blood:	n/a	chr5:114885108-114885121
5	SIN3A	chr5:114884897-114885374	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr5:114884824-114885265	H1-hESC	embryonic stem cell:	n/a	chr5:114884938-114884954 chr5:114884941-114884955
7	ZNF143	chr5:114884851-114885274	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr5:114884791-114885219	A549	lung:	n/a	n/a
9	FOXM1	chr5:114884646-114885252	GM12878	blood:	n/a	n/a
10	MAFF	chr5:114884418-114885037	HepG2	liver:	n/a	n/a
11	MXI1	chr5:114884854-114885141	GM12878	blood:	n/a	n/a
12	RAD21	chr5:114884818-114885299	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:114884892-114885140	H1-hESC	embryonic stem cell:	n/a	n/a
14	RUNX3	chr5:114884763-114885262	GM12878	blood:	n/a	n/a
15	RAD21	chr5:114884896-114885224	HepG2	liver:	n/a	n/a
16	CTCF	chr5:114884897-114885290	K562	blood:	n/a	n/a
17	CTCF	chr5:114884900-114885050	GM12873	blood:	n/a	n/a
18	RAD21	chr5:114884828-114885211	IMR90	lung:	n/a	n/a
19	CTCF	chr5:114884834-114885194	K562	blood:	n/a	n/a
20	CTCF	chr5:114884858-114885152	HepG2	liver:	n/a	n/a
21	RAD21	chr5:114884762-114885248	HepG2	liver:	n/a	n/a
22	RUNX3	chr5:114884731-114885317	GM12878	blood:	n/a	n/a
23	CTCF	chr5:114884897-114885160	GM12878	blood:	n/a	n/a
24	ZNF384	chr5:114884883-114885210	GM12878	blood:	n/a	n/a
25	RAD21	chr5:114884725-114885244	HCT-116	colon:	n/a	n/a
26	TAF7	chr5:114884838-114885149	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOXM1	chr5:114884817-114885173	GM12878	blood:	n/a	n/a
28	RAD21	chr5:114884867-114885224	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr5:114884857-114885186	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr5:114884863-114885235	A549	lung:	n/a	n/a
31	BRCA1	chr5:114884895-114885186	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr5:114884818-114885219	GM12878	blood:	n/a	n/a
33	CTCF	chr5:114884902-114885120	K562	blood:	n/a	n/a
34	RAD21	chr5:114884685-114885234	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr5:114884900-114885050	GM12868	blood:	n/a	n/a
36	RELA	chr5:114884851-114885307	GM19099	blood:	n/a	n/a
37	ELF1	chr5:114884809-114885297	K562	blood:	n/a	chr5:114885120-114885131 chr5:114885121-114885130 chr5:114884989-114885000 chr5:114885120-114885131
38	RAD21	chr5:114884845-114885265	GM12878	blood:	n/a	n/a
39	EP300	chr5:114884837-114885214	H1-hESC	embryonic stem cell:	n/a	chr5:114885121-114885128
40	RAD21	chr5:114884908-114885125	A549	lung:	n/a	n/a
41	RAD21	chr5:114884782-114885289	ECC-1	luminal epithelium:	n/a	n/a
42	ELF1	chr5:114884858-114885185	HepG2	liver:	n/a	chr5:114885120-114885131 chr5:114885121-114885130 chr5:114884989-114885000 chr5:114885120-114885131
43	ELF1	chr5:114884862-114885293	GM12878	blood:	n/a	chr5:114885120-114885131 chr5:114885121-114885130 chr5:114884989-114885000 chr5:114885120-114885131
44	RAD21	chr5:114884808-114885264	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAZ	chr5:114884871-114885256	GM12878	blood:	n/a	n/a
46	CTCF	chr5:114884731-114885355	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr5:114884902-114885065	A549	lung:	n/a	n/a
48	MAFF	chr5:114884507-114885114	K562	blood:	n/a	n/a
49	CTCF	chr5:114884832-114885243	K562	blood:	n/a	n/a
50	MAFK	chr5:114884422-114885123	HepG2	liver:	n/a	chr5:114884938-114884954 chr5:114884941-114884955

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114884555..114885428-chr5:114921974..114922869,2	K562	blood:

Variant related genes	Relation type
FEM1C	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11740401	0.80[AMR][1000 genomes]
rs11743277	0.82[AMR][1000 genomes]
rs1363550	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1422641	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1422642	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1422643	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1422644	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1592942	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1592943	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17137937	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17138030	0.84[ASN][1000 genomes]
rs185379	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1895283	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194398	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978441	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052504	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2052505	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288384	0.91[ASN][1000 genomes]
rs2431600	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2546473	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2546483	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs256946	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs256958	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256966	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256973	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256974	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256975	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256979	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256981	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256982	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256983	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256985	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256992	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597	0.90[ASN][1000 genomes]
rs2617441	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34986301	0.82[AMR][1000 genomes]
rs4920867	0.90[ASN][1000 genomes]
rs4920869	0.86[ASN][1000 genomes]
rs57010629	0.84[ASN][1000 genomes]
rs60640600	0.88[ASN][1000 genomes]
rs72817155	0.82[AMR][1000 genomes]
rs73253005	0.83[AFR][1000 genomes]
rs73254600	0.84[ASN][1000 genomes]
rs73264735	0.84[AMR][1000 genomes]
rs73782714	0.84[ASN][1000 genomes]
rs7702747	0.90[AMR][1000 genomes]
rs9326965	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9968571	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114881000-114886400	Weak transcription	Stomach Mucosa	stomach
2	chr5:114881000-114893200	Weak transcription	Right Ventricle	heart
3	chr5:114881200-114887200	Weak transcription	NH-A	brain
4	chr5:114881400-114886400	Weak transcription	Fetal Lung	lung
5	chr5:114881400-114886800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:114882600-114886600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:114884600-114885600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:114884600-114885600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:114884800-114885200	Enhancers	Thymus	Thymus
10	chr5:114884800-114885400	Enhancers	GM12878-XiMat	blood
11	chr5:114884800-114885600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:114884800-114885600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:114884800-114885800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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