Variant report

Variant	rs17172903
Chromosome Location	chr7:47797595-47797596
allele	C/T
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	NR3C1	chr7:47797370-47797914	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797893-47797902 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
2	FOS	chr7:47797510-47797751	MCF10A-Er-Src	breast:	n/a	chr7:47797710-47797721
3	POLR2A	chr7:47797457-47798416	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr7:47797416-47797903	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:47797545-47797628	ProgFib	skin:	n/a	n/a
6	RAD21	chr7:47797484-47797798	IMR90	lung:	n/a	n/a
7	CTCF	chr7:47797540-47797690	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr7:47797580-47797730	HMEC	breast:	n/a	n/a
9	CTCF	chr7:47797540-47797690	AG09309	skin:	n/a	n/a
10	CTCF	chr7:47797520-47797670	HCM	heart:	n/a	n/a
11	FOS	chr7:47797487-47797799	MCF10A-Er-Src	breast:	n/a	chr7:47797710-47797721
12	RAD21	chr7:47797463-47797767	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr7:47797465-47797938	U87	brain:	n/a	n/a
14	FOXA1	chr7:47797407-47798059	A549	lung:	n/a	chr7:47797920-47797932
15	FOS	chr7:47797499-47797811	MCF10A-Er-Src	breast:	n/a	chr7:47797710-47797721
16	POLR2A	chr7:47797467-47798114	SK-N-SH	brain:	n/a	n/a
17	NR3C1	chr7:47797461-47797776	ECC-1	luminal epithelium:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
18	STAT3	chr7:47797524-47797784	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr7:47797520-47797670	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr7:47797560-47797710	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr7:47797580-47797730	HMF	breast:	n/a	n/a
22	POLR2A	chr7:47797105-47798610	MCF10A-Er-Src	breast:	n/a	n/a
23	NR3C1	chr7:47797392-47797872	ECC-1	luminal epithelium:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
24	TAF1	chr7:47797516-47797769	SK-N-SH	brain:	n/a	n/a
25	MYC	chr7:47797504-47797895	MCF10A-Er-Src	breast:	n/a	n/a
26	NR3C1	chr7:47797343-47797898	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
27	RAD21	chr7:47797078-47799530	SK-N-SH	brain:	n/a	chr7:47798835-47798854 chr7:47798840-47798850 chr7:47797943-47797956 chr7:47798536-47798550
28	CTCF	chr7:47797560-47797710	AG04450	lung:	n/a	n/a
29	CREB1	chr7:47797490-47797813	A549	lung:	n/a	n/a
30	NR3C1	chr7:47797387-47797860	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
31	NR3C1	chr7:47797515-47797806	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
32	MYC	chr7:47797531-47797743	MCF-7	breast:	n/a	n/a
33	NR3C1	chr7:47797498-47797928	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797893-47797902 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
34	NR3C1	chr7:47797319-47797928	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797893-47797902 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
35	CTCF	chr7:47797580-47797730	AG04449	skin:	n/a	n/a
36	NR3C1	chr7:47797280-47797958	A549	lung:	n/a	chr7:47797639-47797655 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797634-47797660 chr7:47797640-47797654 chr7:47797893-47797902 chr7:47797640-47797654 chr7:47797639-47797655 chr7:47797634-47797660 chr7:47797639-47797656
37	STAT3	chr7:47797393-47797625	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr7:47797568-47797663	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:47797580-47797730	HCFaa	heart:	n/a	n/a
40	FOS	chr7:47797511-47797756	MCF10A-Er-Src	breast:	n/a	chr7:47797710-47797721
41	E2F4	chr7:47797543-47797813	MCF10A-Er-Src	breast:	n/a	chr7:47797588-47797598
42	CTCF	chr7:47797580-47797730	AoAF	blood vessel:	n/a	n/a
43	STAT3	chr7:47797532-47797764	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47788868..47790580-chr7:47796478..47799163,2	MCF-7	breast:

Variant related genes	Relation type
LINC00525	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10951923	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11971419	0.88[AFR][1000 genomes]
rs11978262	0.88[AFR][1000 genomes]
rs13438587	0.89[AFR][1000 genomes]
rs17172902	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545060	0.89[AFR][1000 genomes]
rs28454924	0.85[AFR][1000 genomes]
rs28581988	0.84[AFR][1000 genomes]
rs28620363	0.88[AFR][1000 genomes]
rs6953931	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971770	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47796000-47797800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:47796200-47798600	Enhancers	NH-A	brain
4	chr7:47796200-47799000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:47796200-47799000	Enhancers	Osteobl	bone
6	chr7:47796400-47797800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:47796400-47799400	Enhancers	HMEC	breast
8	chr7:47796800-47799400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:47797000-47797800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:47797000-47797800	Enhancers	HSMM	muscle
11	chr7:47797000-47798000	Enhancers	HSMMtube	muscle
12	chr7:47797000-47798200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:47797000-47798200	Enhancers	NHEK	skin
14	chr7:47797000-47798400	Enhancers	Psoas Muscle	Psoas
15	chr7:47797000-47798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:47797000-47798600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:47797200-47797600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:47797200-47797800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:47797200-47797800	Enhancers	Placenta	Placenta
20	chr7:47797200-47797800	Enhancers	Left Ventricle	heart
21	chr7:47797200-47798200	Enhancers	Brain Angular Gyrus	brain
22	chr7:47797200-47798400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:47797200-47798400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:47797200-47798400	Enhancers	Fetal Lung	lung
25	chr7:47797200-47798400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:47797200-47798600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:47797200-47798600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:47797200-47798600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:47797200-47798600	Enhancers	Adipose Nuclei	Adipose
30	chr7:47797200-47798600	Enhancers	Aorta	Aorta
31	chr7:47797200-47798600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:47797200-47798600	Enhancers	Ovary	ovary
33	chr7:47797200-47798600	Enhancers	Right Atrium	heart
34	chr7:47797200-47798600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:47797200-47798800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:47797200-47799000	Enhancers	NHDF-Ad	bronchial
37	chr7:47797200-47799400	Enhancers	NHLF	lung
38	chr7:47797200-47799600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:47797200-47799600	Enhancers	A549	lung
40	chr7:47797400-47797800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:47797400-47798400	Enhancers	Fetal Kidney	kidney
42	chr7:47797400-47798600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:47797400-47798600	Enhancers	Fetal Muscle Trunk	muscle

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