Variant report

Variant	rs73033743
Chromosome Location	chr1:169078002-169078003
allele	A/C
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	chr1:169077923-169079727	A549	lung:	n/a	n/a
2	RAD21	chr1:169077989-169079396	HCT-116	colon:	n/a	chr1:169078627-169078641
3	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
4	YY1	chr1:169077973-169078426	HCT-116	colon:	n/a	chr1:169078226-169078238
5	MAFK	chr1:169076363-169078735	Hela-S3	cervix:	n/a	n/a
6	ESR1	chr1:169077987-169078514	T-47D	breast:	n/a	chr1:169078247-169078264 chr1:169078248-169078265
7	POLR2A	chr1:169077925-169079433	Hela-S3	cervix:	n/a	n/a
8	MAX	chr1:169077728-169079766	A549	lung:	n/a	chr1:169077893-169077902
9	SMARCC1	chr1:169075987-169079359	Hela-S3	cervix:	n/a	n/a
10	YY1	chr1:169077988-169078441	GM12892	blood:	n/a	chr1:169078226-169078238
11	ZNF263	chr1:169074720-169079408	HEK293-T-REx	kidney:	n/a	chr1:169077070-169077079 chr1:169077110-169077119
12	KAP1	chr1:169077986-169079838	HEK293	kidney:	n/a	n/a
13	SMC3	chr1:169077889-169079392	HepG2	liver:	n/a	chr1:169078319-169078333 chr1:169078634-169078641
14	ESR1	chr1:169077978-169078477	T-47D	breast:	n/a	chr1:169078247-169078264 chr1:169078248-169078265
15	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
16	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
17	MAX	chr1:169077684-169079369	Hela-S3	cervix:	n/a	chr1:169077893-169077902
18	MXI1	chr1:169077577-169079354	HepG2	liver:	n/a	n/a
19	RCOR1	chr1:169077891-169079363	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr1:169077816-169079830	A549	lung:	n/a	n/a
21	YY1	chr1:169077906-169078418	A549	lung:	n/a	chr1:169078226-169078238
22	RFX5	chr1:169074571-169080541	SK-N-SH	brain:	n/a	chr1:169077634-169077643
23	POLR2A	chr1:169077712-169079275	MCF10A-Er-Src	breast:	n/a	n/a
24	YY1	chr1:169077938-169078444	A549	lung:	n/a	chr1:169078226-169078238
25	SMC3	chr1:169077706-169079427	Hela-S3	cervix:	n/a	chr1:169078319-169078333 chr1:169078634-169078641
26	YY1	chr1:169077775-169078465	SK-N-SH	brain:	n/a	chr1:169078226-169078238
27	FOS	chr1:169077798-169079353	MCF10A-Er-Src	breast:	n/a	chr1:169077892-169077902 chr1:169077893-169077901 chr1:169077892-169077902
28	CHD1	chr1:169075831-169078461	IMR90	lung:	n/a	n/a
29	YY1	chr1:169077994-169078729	GM12892	blood:	n/a	chr1:169078226-169078238
30	POLR2A	chr1:169076359-169080059	A549	lung:	n/a	n/a
31	REST	chr1:169077835-169080008	A549	lung:	n/a	chr1:169078558-169078578
32	YY1	chr1:169077824-169078466	SK-N-SH_RA	brain:	n/a	chr1:169078226-169078238
33	POLR2A	chr1:169074261-169080200	HepG2	liver:	n/a	n/a
34	ZKSCAN1	chr1:169077893-169079299	Hela-S3	cervix:	n/a	n/a
35	TFAP2C	chr1:169077890-169078429	Hela-S3	cervix:	n/a	chr1:169078235-169078250

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	chr1:169077517..169079516-chr22:21993938..21996836,2	MCF-7	breast:
4	chr1:169075479..169078672-chr1:169335264..169338570,4	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000213063	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000128228	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	0.97[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	0.88[AFR][1000 genomes]
rs73033742	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:121 , 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	chr1:169074800-169078200	Active TSS	Small Intestine	intestine
3	chr1:169074800-169078800	Active TSS	Brain Substantia Nigra	brain
4	chr1:169074800-169079000	Active TSS	Fetal Kidney	kidney
5	chr1:169074800-169079200	Active TSS	Brain Hippocampus Middle	brain
6	chr1:169074800-169079400	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
8	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
9	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
10	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:169075000-169079200	Active TSS	Esophagus	oesophagus
12	chr1:169075000-169079200	Active TSS	Fetal Intestine Large	intestine
13	chr1:169075000-169079200	Active TSS	Gastric	stomach
14	chr1:169075000-169079400	Active TSS	Colon Smooth Muscle	Colon
15	chr1:169075000-169080000	Active TSS	Brain Anterior Caudate	brain
16	chr1:169075000-169080000	Active TSS	GM12878-XiMat	blood
17	chr1:169075000-169080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:169075200-169079400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:169076000-169078200	Bivalent/Poised TSS	HepG2	liver
21	chr1:169076000-169078400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
22	chr1:169076000-169079400	Active TSS	Right Atrium	heart
23	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:169076600-169078200	Transcr. at gene 5' and 3'	A549	lung
26	chr1:169076600-169078200	Flanking Active TSS	NHEK	skin
27	chr1:169076600-169078400	Flanking Active TSS	Dnd41	blood
28	chr1:169076600-169080200	Flanking Active TSS	NH-A	brain
29	chr1:169076600-169080600	Flanking Active TSS	HUVEC	blood vessel
30	chr1:169076800-169078400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr1:169076800-169078800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:169076800-169078800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:169076800-169079400	Active TSS	Adipose Nuclei	Adipose
34	chr1:169076800-169079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:169076800-169080000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:169076800-169080400	Active TSS	Brain Angular Gyrus	brain
37	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:169077000-169078200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:169077000-169078200	Flanking Active TSS	Osteobl	bone
40	chr1:169077000-169078400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:169077000-169079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:169077000-169079200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:169077000-169079800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:169077000-169080000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:169077000-169080200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:169077200-169078200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:169077200-169078200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:169077200-169078400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:169077200-169078600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:169077200-169079000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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