Variant report

Variant	rs74129506
Chromosome Location	chr1:152023711-152023712
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	GATA3	chr1:152023679-152024058	T-47D	breast:	n/a	n/a
2	FOS	chr1:152023430-152024062	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr1:152023377-152024074	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr1:152023607-152024044	K562	blood:	n/a	n/a
5	CTCF	chr1:152023707-152024164	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:152023596-152024228	MCF-7	breast:	n/a	n/a
7	STAT3	chr1:152023312-152024185	MCF10A-Er-Src	breast:	n/a	chr1:152024029-152024041 chr1:152023337-152023345 chr1:152024035-152024047
8	FOS	chr1:152023388-152024151	MCF10A-Er-Src	breast:	n/a	chr1:152024081-152024095
9	POLR2A	chr1:152018724-152024242	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:152023270-152024177	MCF10A-Er-Src	breast:	n/a	chr1:152024081-152024095
11	STAT3	chr1:152023282-152024405	MCF10A-Er-Src	breast:	n/a	chr1:152024029-152024041 chr1:152023337-152023345 chr1:152024035-152024047
12	SMARCC2	chr1:152022306-152024242	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr1:152023612-152024053	Hela-S3	cervix:	n/a	n/a
14	MYC	chr1:152023340-152024183	MCF10A-Er-Src	breast:	n/a	n/a
15	RAD21	chr1:152023406-152024078	Hela-S3	cervix:	n/a	n/a
16	ZNF384	chr1:152023348-152023971	K562	blood:	n/a	n/a
17	MYC	chr1:152023382-152024177	MCF10A-Er-Src	breast:	n/a	n/a
18	SMARCC1	chr1:152022801-152024146	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:152023354-152024183	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152023109..152026981-chr1:152153674..152157448,4	MCF-7	breast:
2	chr1:151880510..151884478-chr1:152021819..152026164,4	MCF-7	breast:
3	chr1:152023403..152024337-chr1:152114175..152115049,2	MCF-7	breast:
4	chr1:152021831..152023817-chr1:152026030..152027849,2	K562	blood:
5	chr1:152023608..152024485-chr1:152160789..152161681,3	MCF-7	breast:
6	chr1:151974328..151976089-chr1:152021628..152023753,2	MCF-7	breast:
7	chr1:152021638..152025256-chr1:152144689..152147457,3	MCF-7	breast:
8	chr1:152003076..152005594-chr1:152022985..152024993,2	K562	blood:
9	chr1:152006737..152007414-chr1:152023497..152024114,2	MCF-7	breast:
10	chr1:152023393..152025689-chr1:152081392..152083739,7	MCF-7	breast:
11	chr1:152004094..152009269-chr1:152022985..152027910,7	K562	blood:
12	chr1:152023701..152026048-chr1:152097145..152099541,2	MCF-7	breast:
13	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

Variant related genes	Relation type
S100A11	TF binding region
ENSG00000229021	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000233792	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10157335	0.85[AMR][1000 genomes]
rs10494271	1.00[AMR][1000 genomes]
rs13374107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374906	1.00[EUR][1000 genomes]
rs13375166	1.00[EUR][1000 genomes]
rs13375962	1.00[EUR][1000 genomes]
rs16833656	1.00[EUR][1000 genomes]
rs16833804	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833808	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833817	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833854	0.85[AMR][1000 genomes]
rs56179963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56365520	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56399868	1.00[EUR][1000 genomes]
rs59596794	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60251684	1.00[EUR][1000 genomes]
rs60438363	1.00[AMR][1000 genomes]
rs61697019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995317	0.85[AMR][1000 genomes]
rs74126720	1.00[EUR][1000 genomes]
rs74126729	1.00[EUR][1000 genomes]
rs74126732	1.00[EUR][1000 genomes]
rs74126760	1.00[EUR][1000 genomes]
rs74126777	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126785	0.82[AFR][1000 genomes]
rs74126788	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126790	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126802	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152021000-152023800	Weak transcription	Fetal Kidney	kidney
2	chr1:152021000-152024200	Enhancers	Fetal Intestine Small	intestine
3	chr1:152021000-152024200	Enhancers	Stomach Mucosa	stomach
4	chr1:152021000-152025200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:152021200-152024000	Enhancers	Fetal Intestine Large	intestine
6	chr1:152021200-152024200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:152021200-152024200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:152021200-152024200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:152021200-152024200	Enhancers	NHDF-Ad	bronchial
10	chr1:152021200-152024600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:152021200-152024600	Enhancers	Osteobl	bone
12	chr1:152021200-152025200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:152021200-152025200	Enhancers	HMEC	breast
14	chr1:152021200-152025400	Weak transcription	Colonic Mucosa	Colon
15	chr1:152021400-152023800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:152021400-152024000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:152021400-152024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:152021400-152024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:152021400-152024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:152021400-152024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:152021400-152024400	Enhancers	A549	lung
22	chr1:152021400-152025000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:152021400-152025000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:152021400-152025000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:152021400-152025200	Enhancers	NHEK	skin
26	chr1:152021600-152023800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:152021600-152024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:152021600-152024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:152021800-152023800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:152021800-152025000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:152022000-152025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:152022800-152024000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr1:152023000-152023800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:152023000-152024000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:152023000-152024600	Enhancers	Primary B cells from cord blood	blood
36	chr1:152023200-152024000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:152023200-152024000	Enhancers	NHLF	lung
38	chr1:152023400-152024200	Enhancers	Small Intestine	intestine
39	chr1:152023400-152024200	Enhancers	Dnd41	blood
40	chr1:152023400-152024200	Enhancers	K562	blood
41	chr1:152023600-152023800	Enhancers	HSMMtube	muscle
42	chr1:152023600-152024000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:152023600-152024000	Enhancers	Fetal Thymus	thymus
44	chr1:152023600-152024200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:152023600-152024800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:152023600-152025200	Enhancers	Hela-S3	cervix
47	chr1:152023600-152025400	Enhancers	Placenta	Placenta

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