Variant report

Variant	rs61846298
Chromosome Location	chr1:242153325-242153326
allele	A/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	ZNF263	chr1:242153311-242153732	HEK293-T-REx	kidney:	n/a	chr1:242153492-242153513
2	RCOR1	chr1:242153288-242153805	Hela-S3	cervix:	n/a	n/a
3	PBX3	chr1:242153311-242153739	SK-N-SH	brain:	n/a	n/a
4	RFX5	chr1:242153289-242153747	Hela-S3	cervix:	n/a	n/a
5	USF1	chr1:242153161-242153837	SK-N-SH	brain:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
6	MAX	chr1:242153272-242153784	A549	lung:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
7	CEBPB	chr1:242153255-242153783	Hela-S3	cervix:	n/a	n/a
8	MYC	chr1:242153214-242153735	MCF10A-Er-Src	breast:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
9	MAX	chr1:242153308-242153748	SK-N-SH	brain:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
10	USF1	chr1:242153238-242153716	SK-N-SH	brain:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
11	USF1	chr1:242153298-242153635	SK-N-SH_RA	brain:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
12	USF2	chr1:242153267-242153736	Hela-S3	cervix:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
13	MYC	chr1:242153277-242153714	MCF10A-Er-Src	breast:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
14	USF1	chr1:242153325-242153676	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
15	BHLHE40	chr1:242153309-242153692	K562	blood:	n/a	chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
16	USF1	chr1:242153301-242153706	K562	blood:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
17	USF1	chr1:242153289-242153666	ECC-1	luminal epithelium:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
18	USF1	chr1:242153279-242153661	K562	blood:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
19	MAFK	chr1:242153261-242153735	Hela-S3	cervix:	n/a	n/a
20	USF1	chr1:242153260-242153753	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
21	TCF12	chr1:242153220-242153766	SK-N-SH	brain:	n/a	n/a
22	USF1	chr1:242153283-242153707	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
23	JUND	chr1:242153260-242153765	SK-N-SH	brain:	n/a	chr1:242153455-242153469
24	NFIC	chr1:242153171-242153764	SK-N-SH	brain:	n/a	n/a
25	MAX	chr1:242153300-242153703	SK-N-SH	brain:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
26	MAX	chr1:242153320-242153712	Hela-S3	cervix:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
27	USF1	chr1:242153240-242153630	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
28	STAT3	chr1:242153189-242153700	MCF10A-Er-Src	breast:	n/a	n/a
29	USF1	chr1:242153236-242153696	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
30	FOS	chr1:242153173-242153758	MCF10A-Er-Src	breast:	n/a	chr1:242153455-242153469
31	FOS	chr1:242153159-242153765	MCF10A-Er-Src	breast:	n/a	chr1:242153455-242153469
32	STAT3	chr1:242153291-242153630	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr1:242153286-242153716	A549	lung:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
34	TCF7L2	chr1:242153301-242154325	Hela-S3	cervix:	n/a	n/a
35	MAX	chr1:242153309-242153777	Hela-S3	cervix:	n/a	chr1:242153473-242153482 chr1:242153471-242153484 chr1:242153471-242153484 chr1:242153472-242153483
36	USF1	chr1:242153299-242153802	HCT-116	colon:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
37	TCF12	chr1:242153243-242153837	A549	lung:	n/a	n/a
38	GATA3	chr1:242153270-242153774	SK-N-SH	brain:	n/a	n/a
39	USF1	chr1:242153235-242153748	HCT-116	colon:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
40	FOS	chr1:242153274-242153764	MCF10A-Er-Src	breast:	n/a	chr1:242153455-242153469
41	USF1	chr1:242153315-242153626	H1-hESC	embryonic stem cell:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
42	USF1	chr1:242153232-242153713	SK-N-SH_RA	brain:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
43	FOS	chr1:242153158-242153763	MCF10A-Er-Src	breast:	n/a	chr1:242153455-242153469
44	FOSL2	chr1:242153272-242153724	SK-N-SH	brain:	n/a	chr1:242153455-242153469
45	USF1	chr1:242153294-242153697	A549	lung:	n/a	chr1:242153471-242153482 chr1:242153473-242153482 chr1:242153473-242153482 chr1:242153467-242153488 chr1:242153472-242153481
46	PBX3	chr1:242153277-242153781	SK-N-SH	brain:	n/a	n/a
47	TCF12	chr1:242153251-242153762	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr1:242153303-242153772	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242144580..242146530-chr1:242152140..242153827,2	K562	blood:
2	chr1:242063761..242065381-chr1:242152078..242153652,2	MCF-7	breast:

Variant related genes	Relation type
CFL1P4	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28435820	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28507594	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28562215	0.91[EUR][1000 genomes]
rs28687585	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34298997	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35410272	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61846302	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3353742	chr1:242129501-242179261	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv869647	chr1:242141471-242248271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv508703	chr1:242146940-242252101	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242121400-242161800	Weak transcription	Right Atrium	heart
2	chr1:242142800-242153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:242149600-242155600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:242151400-242153600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:242151600-242153600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:242151600-242153600	Enhancers	Fetal Lung	lung
7	chr1:242151600-242153600	Enhancers	NH-A	brain
8	chr1:242151600-242154400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:242151600-242154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:242151600-242154400	Enhancers	HSMM	muscle
11	chr1:242151600-242154600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:242152000-242154400	Enhancers	Ovary	ovary
13	chr1:242152000-242156600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:242152200-242154000	Enhancers	A549	lung
15	chr1:242152200-242154200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:242152400-242153600	Enhancers	Fetal Stomach	stomach
17	chr1:242152400-242154200	Enhancers	NHDF-Ad	bronchial
18	chr1:242152600-242156600	Weak transcription	Placenta	Placenta
19	chr1:242152600-242161400	Weak transcription	Adipose Nuclei	Adipose
20	chr1:242152600-242161600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:242152800-242154400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:242153000-242154800	Enhancers	Hela-S3	cervix
23	chr1:242153000-242156200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:242153200-242153400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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