Variant report

Variant	rs550024473
Chromosome Location	chr1:153671749-153671750
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	BRCA1	chr1:153670709-153672144	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:153671535-153671933	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr1:153669636-153671999	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr1:153669389-153672084	Hela-S3	cervix:	n/a	chr1:153671678-153671687
5	GATA3	chr1:153671165-153672100	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr1:153671599-153672174	Hela-S3	cervix:	n/a	n/a
7	JUND	chr1:153671614-153671921	K562	blood:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
8	CEBPB	chr1:153671617-153672023	IMR90	lung:	n/a	n/a
9	MYC	chr1:153671634-153671998	MCF10A-Er-Src	breast:	n/a	n/a
10	SMC3	chr1:153671537-153672113	Hela-S3	cervix:	n/a	n/a
11	MYC	chr1:153671664-153671902	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr1:153671622-153672121	K562	blood:	n/a	n/a
13	RAD21	chr1:153671563-153672032	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:153671427-153672029	Hela-S3	cervix:	n/a	n/a
15	GTF2F1	chr1:153671546-153672114	Hela-S3	cervix:	n/a	n/a
16	TBP	chr1:153671602-153672129	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:153671509-153672042	A549	lung:	n/a	n/a
18	CEBPB	chr1:153671591-153672130	A549	lung:	n/a	n/a
19	FOS	chr1:153671603-153671938	MCF10A-Er-Src	breast:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
20	CEBPB	chr1:153670708-153672206	Hela-S3	cervix:	n/a	n/a
21	SMARCB1	chr1:153669688-153672025	Hela-S3	cervix:	n/a	chr1:153671678-153671687
22	JUND	chr1:153671477-153672124	Hela-S3	cervix:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
23	MXI1	chr1:153670701-153672014	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr1:153670738-153672167	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr1:153671691-153671970	HepG2	liver:	n/a	n/a
26	FOS	chr1:153671597-153671939	MCF10A-Er-Src	breast:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
27	MAZ	chr1:153671548-153672014	Hela-S3	cervix:	n/a	n/a
28	FOS	chr1:153671547-153671949	MCF10A-Er-Src	breast:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
29	MAX	chr1:153671507-153672016	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:153671551-153671883	Hela-S3	cervix:	n/a	n/a
31	ATF1	chr1:153671573-153671901	K562	blood:	n/a	n/a
32	FOS	chr1:153671535-153671954	MCF10A-Er-Src	breast:	n/a	chr1:153671677-153671689 chr1:153671679-153671687 chr1:153671675-153671686
33	POLR2A	chr1:153671524-153672057	Hela-S3	cervix:	n/a	n/a
34	USF2	chr1:153671441-153672040	Hela-S3	cervix:	n/a	n/a
35	MAX	chr1:153671427-153672054	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr1:153671517-153671946	Hela-S3	cervix:	n/a	n/a
37	ELK1	chr1:153671659-153672202	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr1:153671738-153671819	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr1:153671567-153672073	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153668419..153672342-chr1:153699600..153701905,4	MCF-7	breast:
2	chr1:153649692..153651457-chr1:153668885..153672459,3	K562	blood:
3	chr1:153643715..153646402-chr1:153669799..153672333,2	K562	blood:
4	chr1:153668994..153671784-chr1:153687110..153689814,2	K562	blood:
5	chr1:153643715..153646402-chr1:153669451..153672333,3	K562	blood:
6	chr1:153670008..153671811-chr1:153675151..153676729,2	MCF-7	breast:
7	chr1:153669844..153671939-chr1:153699071..153701847,2	K562	blood:
8	chr1:153669010..153673102-chr1:153699484..153702565,5	MCF-7	breast:
9	chr1:153669864..153672115-chr1:153679120..153682442,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL372P	TF binding region
ENSG00000242565	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000169418	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
13	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
14	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv16517	chr1:153671644-153695309	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153669200-153672000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:153669200-153672400	Enhancers	A549	lung
3	chr1:153669400-153671800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:153669400-153671800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:153669400-153672000	Enhancers	Fetal Kidney	kidney
6	chr1:153669400-153672000	Enhancers	Ovary	ovary
7	chr1:153669400-153672200	Flanking Active TSS	Hela-S3	cervix
8	chr1:153669600-153671800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:153669600-153671800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:153669600-153671800	Enhancers	Fetal Stomach	stomach
11	chr1:153669600-153672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:153669600-153672000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:153669600-153672000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:153669600-153672000	Enhancers	Placenta	Placenta
15	chr1:153669600-153672200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:153669600-153672200	Enhancers	Stomach Mucosa	stomach
17	chr1:153669600-153672600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:153669800-153671800	Enhancers	Right Ventricle	heart
19	chr1:153669800-153671800	Enhancers	NHLF	lung
20	chr1:153669800-153672000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:153670000-153671800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:153670000-153672000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:153670000-153672200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:153670000-153672400	Enhancers	NHDF-Ad	bronchial
25	chr1:153670200-153671800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:153670200-153671800	Enhancers	Brain Germinal Matrix	brain
27	chr1:153670600-153672200	Enhancers	Osteobl	bone
28	chr1:153670800-153671800	Enhancers	Fetal Intestine Small	intestine
29	chr1:153670800-153672000	Enhancers	Fetal Lung	lung
30	chr1:153670800-153672400	Enhancers	GM12878-XiMat	blood
31	chr1:153671000-153671800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:153671000-153671800	Enhancers	Colon Smooth Muscle	Colon
33	chr1:153671000-153671800	Enhancers	Fetal Muscle Leg	muscle
34	chr1:153671000-153672000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:153671000-153672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:153671000-153672000	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:153671000-153672000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:153671000-153672200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:153671000-153672200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:153671000-153672600	Enhancers	Adipose Nuclei	Adipose
41	chr1:153671000-153672600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:153671200-153671800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:153671200-153671800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:153671200-153671800	Enhancers	Brain Hippocampus Middle	brain
45	chr1:153671200-153671800	Flanking Active TSS	HUVEC	blood vessel
46	chr1:153671200-153672000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:153671200-153672000	Enhancers	Brain Anterior Caudate	brain
48	chr1:153671200-153672000	Enhancers	Brain Substantia Nigra	brain
49	chr1:153671200-153672000	Enhancers	Left Ventricle	heart
50	chr1:153671200-153672000	Enhancers	Right Atrium	heart

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