Variant report

Variant	rs73033742
Chromosome Location	chr1:169077419-169077420
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	POLR2A	chr1:169074739-169077862	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr1:169074822-169077754	Hela-S3	cervix:	n/a	chr1:169077634-169077643
3	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:169077387-169077466	HepG2	liver:	n/a	n/a
5	MAFK	chr1:169076363-169078735	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr1:169077101-169077460	HepG2	liver:	n/a	n/a
7	RCOR1	chr1:169076359-169077479	Hela-S3	cervix:	n/a	n/a
8	FOS	chr1:169076857-169077438	HUVEC	blood vessel:	n/a	chr1:169077258-169077269
9	SMARCC1	chr1:169075987-169079359	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr1:169076339-169077494	A549	lung:	n/a	n/a
11	REST	chr1:169076257-169077794	A549	lung:	n/a	chr1:169077629-169077639 chr1:169076262-169076275
12	ZNF263	chr1:169074720-169079408	HEK293-T-REx	kidney:	n/a	chr1:169077070-169077079 chr1:169077110-169077119
13	RAD21	chr1:169074403-169080488	SK-N-SH	brain:	n/a	chr1:169077102-169077114 chr1:169078627-169078641 chr1:169076719-169076731 chr1:169077792-169077801 chr1:169079920-169079939
14	POLR2A	chr1:169075357-169077971	IMR90	lung:	n/a	n/a
15	BRCA1	chr1:169076914-169077508	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr1:169074352-169077666	A549	lung:	n/a	chr1:169075044-169075054 chr1:169075804-169075811 chr1:169075253-169075260
17	REST	chr1:169074554-169080074	H1-neurons	neurons:	n/a	chr1:169075463-169075476 chr1:169077629-169077639 chr1:169078558-169078578 chr1:169076262-169076275 chr1:169076181-169076191 chr1:169075295-169075305 chr1:169075034-169075047 chr1:169075245-169075258
18	MAX	chr1:169074863-169077471	Hela-S3	cervix:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357 chr1:169077106-169077116
19	RFX5	chr1:169074571-169080541	SK-N-SH	brain:	n/a	chr1:169077634-169077643
20	CHD1	chr1:169075831-169078461	IMR90	lung:	n/a	n/a
21	POLR2A	chr1:169076359-169080059	A549	lung:	n/a	n/a
22	MAFK	chr1:169077101-169077467	HepG2	liver:	n/a	n/a
23	MAZ	chr1:169074728-169077621	IMR90	lung:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357 chr1:169077106-169077116
24	POLR2A	chr1:169074261-169080200	HepG2	liver:	n/a	n/a
25	MAFK	chr1:169077063-169077516	IMR90	lung:	n/a	n/a
26	POLR2A	chr1:169076982-169077441	H1-neurons	neurons:	n/a	n/a
27	MAFF	chr1:169077236-169077425	K562	blood:	n/a	n/a
28	MYC	chr1:169077385-169077514	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:169077112-169077478	MCF10A-Er-Src	breast:	n/a	chr1:169077258-169077269

No.	Distal block	Cell Line	Cell type
1	chr1:169045786..169047308-chr1:169077237..169079576,2	K562	blood:
2	chr1:168907357..168910687-chr1:169076812..169079423,3	MCF-7	breast:
3	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
4	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:
5	chr1:169075479..169078672-chr1:169335264..169338570,4	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000117475	Chromatin interaction
ENSG00000213063	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000203601	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10919089	1.00[EUR][1000 genomes]
rs12068499	1.00[EUR][1000 genomes]
rs12077900	1.00[EUR][1000 genomes]
rs12084554	1.00[EUR][1000 genomes]
rs12086569	1.00[EUR][1000 genomes]
rs12088527	1.00[EUR][1000 genomes]
rs16861916	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61204485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61255541	1.00[AMR][1000 genomes]
rs6698984	1.00[EUR][1000 genomes]
rs73033741	0.85[AFR][1000 genomes]
rs73033743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042062	1.00[EUR][1000 genomes]
rs975991	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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169074000-169078800	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:169074600-169077600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:169074600-169077800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:169074600-169077800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:169074600-169078000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:169074800-169077600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:169074800-169078000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:169074800-169078000	Active TSS	Ovary	ovary
9	chr1:169074800-169078000	Active TSS	Psoas Muscle	Psoas
10	chr1:169074800-169078200	Active TSS	Small Intestine	intestine
11	chr1:169074800-169078800	Active TSS	Brain Substantia Nigra	brain
12	chr1:169074800-169079000	Active TSS	Fetal Kidney	kidney
13	chr1:169074800-169079200	Active TSS	Brain Hippocampus Middle	brain
14	chr1:169074800-169079400	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
16	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
17	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
18	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:169075000-169077600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:169075000-169077600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:169075000-169077600	Active TSS	Pancreas	Pancrea
22	chr1:169075000-169077800	Active TSS	Fetal Brain Female	brain
23	chr1:169075000-169078000	Active TSS	Fetal Intestine Small	intestine
24	chr1:169075000-169078000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:169075000-169079200	Active TSS	Esophagus	oesophagus
26	chr1:169075000-169079200	Active TSS	Fetal Intestine Large	intestine
27	chr1:169075000-169079200	Active TSS	Gastric	stomach
28	chr1:169075000-169079400	Active TSS	Colon Smooth Muscle	Colon
29	chr1:169075000-169080000	Active TSS	Brain Anterior Caudate	brain
30	chr1:169075000-169080000	Active TSS	GM12878-XiMat	blood
31	chr1:169075000-169080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:169075200-169077600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:169075200-169077600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:169075200-169077600	Active TSS	Thymus	Thymus
36	chr1:169075200-169077800	Active TSS	Lung	lung
37	chr1:169075200-169079400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:169075400-169078000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:169076000-169078000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:169076000-169078200	Bivalent/Poised TSS	HepG2	liver
41	chr1:169076000-169078400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
42	chr1:169076000-169079400	Active TSS	Right Atrium	heart
43	chr1:169076200-169078000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr1:169076400-169077600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:169076400-169077600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:169076400-169077800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
47	chr1:169076400-169078000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:169076600-169077600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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