Variant report

Variant	rs4415293
Chromosome Location	chr8:125151120-125151121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
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	RAD21	chr8:125150239-125151467	ECC-1	luminal epithelium:	n/a	n/a
2	NR3C1	chr8:125150792-125151371	ECC-1	luminal epithelium:	n/a	chr8:125150807-125150833 chr8:125150807-125150833 chr8:125150813-125150827
3	CEBPB	chr8:125150327-125151228	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr8:125150669-125151410	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr8:125150302-125151491	ECC-1	luminal epithelium:	n/a	chr8:125150895-125150902
6	MAX	chr8:125150244-125151387	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr8:125150280-125151444	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr8:125150152-125151490	ECC-1	luminal epithelium:	n/a	chr8:125150895-125150902
9	NR3C1	chr8:125150336-125151367	ECC-1	luminal epithelium:	n/a	chr8:125150807-125150833 chr8:125150807-125150833 chr8:125150813-125150827
10	FOXM1	chr8:125150241-125151423	ECC-1	luminal epithelium:	n/a	n/a
11	GATA3	chr8:125150174-125151186	MCF-7	breast:	n/a	n/a
12	MAX	chr8:125150053-125151139	MCF-7	breast:	n/a	n/a
13	NR2F2	chr8:125149972-125151251	MCF-7	breast:	n/a	n/a
14	ESR1	chr8:125150262-125151405	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr8:125150342-125151495	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr8:125150094-125151481	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr8:125150199-125151479	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr8:125150754-125151263	ECC-1	luminal epithelium:	n/a	n/a
19	NFIC	chr8:125150125-125151520	ECC-1	luminal epithelium:	n/a	n/a
20	FOXM1	chr8:125150241-125151482	ECC-1	luminal epithelium:	n/a	n/a
21	GATA3	chr8:125150185-125151252	MCF-7	breast:	n/a	n/a
22	TEAD4	chr8:125150209-125151457	ECC-1	luminal epithelium:	n/a	n/a
23	YY1	chr8:125150298-125151192	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3AK20	chr8:125150125-125151283	MCF-7	breast:	n/a	n/a
25	MAX	chr8:125150169-125151417	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr8:125150318-125151420	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr8:125150198-125151519	ECC-1	luminal epithelium:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
ENSG00000250727	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10086895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10091796	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10097532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103694	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775425	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11776314	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11778782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783434	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11784216	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12550345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13278430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242354	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242356	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242357	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4242359	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4265167	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338088	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4380915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4388445	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4389915	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413756	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437631	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4455808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574828	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574829	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613979	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870890	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4870891	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4871463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470224	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470225	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984544	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6984987	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6986145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988185	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6991000	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6998116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7000177	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7004059	0.86[CHB][hapmap]
rs7008971	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7010103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011521	0.86[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7014933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015444	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016383	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7818609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7819890	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs7826680	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834687	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7837991	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs7839182	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9297686	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125142200-125152800	Weak transcription	Gastric	stomach
2	chr8:125149000-125151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:125149200-125152800	Enhancers	Fetal Heart	heart
4	chr8:125149400-125151200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:125149800-125151400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:125150000-125151200	Enhancers	Fetal Lung	lung
7	chr8:125150000-125151200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:125150000-125151200	Enhancers	HMEC	breast
9	chr8:125150000-125151200	Enhancers	NH-A	brain
10	chr8:125150200-125151200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:125150200-125151200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125150200-125151200	Enhancers	Fetal Intestine Small	intestine
13	chr8:125150200-125151200	Enhancers	Left Ventricle	heart
14	chr8:125150200-125151200	Enhancers	Ovary	ovary
15	chr8:125150200-125151200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr8:125150200-125151200	Enhancers	Right Ventricle	heart
17	chr8:125150200-125151200	Enhancers	Stomach Mucosa	stomach
18	chr8:125150200-125151200	Enhancers	NHEK	skin
19	chr8:125150200-125151400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:125150200-125151400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:125150200-125151400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125150200-125151400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:125150200-125151600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:125150200-125151600	Enhancers	Placenta	Placenta
25	chr8:125150200-125151800	Enhancers	Pancreas	Pancrea
26	chr8:125150400-125151200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:125150400-125151200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125150400-125151200	Enhancers	Right Atrium	heart
29	chr8:125150400-125151400	Enhancers	Brain Germinal Matrix	brain
30	chr8:125150400-125165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:125150600-125151200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:125150600-125151200	Enhancers	Fetal Intestine Large	intestine
33	chr8:125150600-125151200	Enhancers	NHDF-Ad	bronchial
34	chr8:125150800-125151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:125150800-125151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:125150800-125151200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:125150800-125151400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:125151000-125151200	Enhancers	Esophagus	oesophagus
39	chr8:125151000-125151200	Enhancers	Fetal Thymus	thymus
40	chr8:125151000-125151200	Enhancers	Lung	lung
41	chr8:125151000-125151400	Enhancers	Fetal Brain Male	brain
42	chr8:125151000-125151400	Enhancers	Small Intestine	intestine

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