Variant report

Variant	rs4574829
Chromosome Location	chr8:125150326-125150327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:125150239-125151467	ECC-1	luminal epithelium:	n/a	n/a
2	HDAC2	chr8:125150138-125150924	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:125150292-125150930	T-47D	breast:	n/a	n/a
4	EP300	chr8:125150302-125151491	ECC-1	luminal epithelium:	n/a	chr8:125150895-125150902
5	RAD21	chr8:125150297-125150799	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr8:125150244-125151387	ECC-1	luminal epithelium:	n/a	n/a
7	ELF1	chr8:125150162-125150956	MCF-7	breast:	n/a	n/a
8	ZNF143	chr8:125150322-125150519	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr8:125150178-125151107	MCF-7	breast:	n/a	n/a
10	ESR1	chr8:125150280-125151444	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr8:125150152-125151490	ECC-1	luminal epithelium:	n/a	chr8:125150895-125150902
12	USF1	chr8:125150288-125150697	ECC-1	luminal epithelium:	n/a	n/a
13	SRF	chr8:125150307-125150946	ECC-1	luminal epithelium:	n/a	n/a
14	FOXM1	chr8:125150241-125151423	ECC-1	luminal epithelium:	n/a	n/a
15	GATA3	chr8:125150174-125151186	MCF-7	breast:	n/a	n/a
16	MAX	chr8:125150053-125151139	MCF-7	breast:	n/a	n/a
17	NR2F2	chr8:125149972-125151251	MCF-7	breast:	n/a	n/a
18	ESR1	chr8:125150262-125151405	ECC-1	luminal epithelium:	n/a	n/a
19	GATA3	chr8:125150241-125151107	T-47D	breast:	n/a	n/a
20	TCF12	chr8:125150094-125151481	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr8:125150235-125150694	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr8:125150199-125151479	ECC-1	luminal epithelium:	n/a	n/a
23	NFIC	chr8:125150125-125151520	ECC-1	luminal epithelium:	n/a	n/a
24	FOXM1	chr8:125150241-125151482	ECC-1	luminal epithelium:	n/a	n/a
25	GATA3	chr8:125150185-125151252	MCF-7	breast:	n/a	n/a
26	NR2F2	chr8:125150107-125150940	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:125150320-125150470	MCF-7	breast:	n/a	n/a
28	RAD21	chr8:125150180-125150950	MCF-7	breast:	n/a	n/a
29	TEAD4	chr8:125150209-125151457	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr8:125150164-125150873	MCF-7	breast:	n/a	n/a
31	SETDB1	chr8:125150300-125150662	U2OS	brain:	n/a	n/a
32	YY1	chr8:125150298-125151192	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr8:125150305-125150976	T-47D	breast:	n/a	chr8:125150895-125150902
34	SIN3AK20	chr8:125150125-125151283	MCF-7	breast:	n/a	n/a
35	MAX	chr8:125150169-125151417	ECC-1	luminal epithelium:	n/a	n/a
36	SP1	chr8:125150187-125151046	HCT-116	colon:	n/a	n/a
37	KAP1	chr8:125150257-125150801	HEK293	kidney:	n/a	chr8:125150368-125150376
38	ZNF217	chr8:125150303-125150811	MCF-7	breast:	n/a	n/a
39	ESR1	chr8:125150318-125151420	ECC-1	luminal epithelium:	n/a	n/a
40	TCF12	chr8:125150198-125151519	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125148790..125152078-chr8:125191101..125194599,4	MCF-7	breast:
2	chr8:125147766..125150713-chr8:125237098..125239793,2	MCF-7	breast:
3	chr8:125148218..125150368-chr8:125150810..125153533,2	MCF-7	breast:
4	chr8:125140591..125143407-chr8:125149465..125152735,3	K562	blood:
5	chr8:125149183..125152556-chr8:125157722..125161369,5	MCF-7	breast:
6	chr8:125144844..125146869-chr8:125149963..125151854,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250727	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10086895	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10097532	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103694	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112410	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956166	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778782	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550345	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550369	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251319	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251598	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257056	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258556	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13278430	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242354	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265167	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338088	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363179	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4380915	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4389915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413755	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415293	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431575	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431576	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454257	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4455808	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871463	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871464	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871465	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986145	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998116	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998145	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010277	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014933	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015097	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818609	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826680	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833371	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297686	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125142200-125152800	Weak transcription	Gastric	stomach
2	chr8:125149000-125151000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:125149000-125151000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:125149000-125151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:125149200-125152800	Enhancers	Fetal Heart	heart
6	chr8:125149400-125151200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:125149800-125151400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:125150000-125151000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:125150000-125151200	Enhancers	Fetal Lung	lung
10	chr8:125150000-125151200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr8:125150000-125151200	Enhancers	HMEC	breast
12	chr8:125150000-125151200	Enhancers	NH-A	brain
13	chr8:125150200-125150400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125150200-125150400	Enhancers	Aorta	Aorta
15	chr8:125150200-125150400	Enhancers	Esophagus	oesophagus
16	chr8:125150200-125150400	Enhancers	Lung	lung
17	chr8:125150200-125151200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:125150200-125151200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125150200-125151200	Enhancers	Fetal Intestine Small	intestine
20	chr8:125150200-125151200	Enhancers	Left Ventricle	heart
21	chr8:125150200-125151200	Enhancers	Ovary	ovary
22	chr8:125150200-125151200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr8:125150200-125151200	Enhancers	Right Ventricle	heart
24	chr8:125150200-125151200	Enhancers	Stomach Mucosa	stomach
25	chr8:125150200-125151200	Enhancers	NHEK	skin
26	chr8:125150200-125151400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:125150200-125151400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:125150200-125151400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:125150200-125151400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:125150200-125151600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:125150200-125151600	Enhancers	Placenta	Placenta
32	chr8:125150200-125151800	Enhancers	Pancreas	Pancrea

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