Variant report

Variant	rs73510427
Chromosome Location	chr6:72130144-72130145
allele	G/T
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	chr6:72128981-72130921	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr6:72128970-72130861	Hela-S3	cervix:	n/a	n/a
3	ZBTB7A	chr6:72129715-72130647	ECC-1	luminal epithelium:	n/a	n/a
4	TAF1	chr6:72129686-72130929	ECC-1	luminal epithelium:	n/a	n/a
5	CTBP2	chr6:72129609-72130814	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr6:72129948-72130916	ECC-1	luminal epithelium:	n/a	n/a
7	SMC3	chr6:72128751-72130880	Hela-S3	cervix:	n/a	chr6:72130579-72130589
8	SIN3A	chr6:72129478-72130924	H1-hESC	embryonic stem cell:	n/a	chr6:72130574-72130585 chr6:72130495-72130508
9	POLR2A	chr6:72130135-72130867	A549	lung:	n/a	n/a
10	SIN3AK20	chr6:72130082-72130467	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr6:72129015-72130921	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr6:72129674-72130953	ECC-1	luminal epithelium:	n/a	chr6:72129721-72129731
13	RAD21	chr6:72129828-72130372	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr6:72130080-72130531	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:72130034-72130764	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr6:72129560-72130195	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr6:72130060-72130210	HMEC	breast:	n/a	n/a
18	SIN3AK20	chr6:72128975-72131028	PANC-1	pancreas:	n/a	n/a
19	SIN3AK20	chr6:72130106-72130860	MCF-7	breast:	n/a	n/a
20	POLR2A	chr6:72128853-72130894	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr6:72128918-72130923	Hela-S3	cervix:	n/a	chr6:72130516-72130526
22	TAF1	chr6:72130108-72130886	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr6:72130041-72131233	A549	lung:	n/a	n/a
24	POLR2A	chr6:72126482-72131073	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr6:72128794-72131020	PANC-1	pancreas:	n/a	n/a
26	ZKSCAN1	chr6:72129761-72130869	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:72130080-72130230	NHDF-neo	bronchial:	n/a	n/a
28	POLR2A	chr6:72129331-72130931	HUVEC	blood vessel:	n/a	n/a
29	TAF1	chr6:72130120-72130863	A549	lung:	n/a	n/a
30	POLR2A	chr6:72129838-72130837	A549	lung:	n/a	n/a
31	TCF7L2	chr6:72129453-72131883	PANC-1	pancreas:	n/a	chr6:72131447-72131456
32	POLR2A	chr6:72129684-72130873	IMR90	lung:	n/a	n/a
33	MAX	chr6:72129913-72130691	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOS	chr6:72129754-72130619	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr6:72128586-72131093	PANC-1	pancreas:	n/a	n/a
36	HA-E2F1	chr6:72129394-72131022	MCF-7	breast:	n/a	chr6:72130574-72130583
37	POLR2A	chr6:72129289-72130928	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr6:72130036-72130777	Hela-S3	cervix:	n/a	n/a
39	REST	chr6:72129987-72130865	H1-neurons	neurons:	n/a	chr6:72130495-72130508 chr6:72130522-72130535
40	POLR2A	chr6:72129620-72131010	ProgFib	skin:	n/a	n/a
41	SMARCB1	chr6:72129094-72130634	Hela-S3	cervix:	n/a	chr6:72129393-72129402
42	MYC	chr6:72130014-72130360	MCF-7	breast:	n/a	n/a
43	MAX	chr6:72129055-72130909	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr6:72129186-72130702	IMR90	lung:	n/a	chr6:72130577-72130589 chr6:72130579-72130589
45	POLR2A	chr6:72129549-72130949	Gliobla	brain:	n/a	n/a
46	POLR2A	chr6:72129728-72130935	HEK293	kidney:	n/a	n/a
47	RCOR1	chr6:72128589-72130987	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:72129711-72130827	HUVEC	blood vessel:	n/a	n/a
49	MAZ	chr6:72129076-72131224	IMR90	lung:	n/a	n/a
50	SMARCC1	chr6:72129073-72130896	Hela-S3	cervix:	n/a	chr6:72129393-72129402

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-3	chr6:72129769-72130472	ENSG00000233237
2	lnc-B3GAT2-3	chr6:72129769-72130522	XLOC_005764
3	lnc-B3GAT2-3	chr6:72129769-72130506	XLOC_005764
4	lnc-B3GAT2-3	chr6:72129769-72130448	XLOC_005764
5	lnc-B3GAT2-3	chr6:72129769-72130472	ENSG00000233237.2

Variant related genes	Relation type
ENSG00000269966	TF binding region
LINC00472	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10080965	0.81[AFR][1000 genomes]
rs1192042	0.83[AFR][1000 genomes]
rs16880824	0.86[AFR][1000 genomes]
rs73520608	0.83[AFR][1000 genomes]
rs9446383	0.86[AFR][1000 genomes]
rs9446384	0.86[AFR][1000 genomes]
rs9446387	0.89[AFR][1000 genomes]
rs9455452	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72127600-72131000	Active TSS	Brain Anterior Caudate	brain
2	chr6:72127600-72131200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:72127600-72131200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:72127600-72131200	Active TSS	Brain Angular Gyrus	brain
5	chr6:72127600-72131400	Active TSS	Stomach Smooth Muscle	stomach
6	chr6:72127800-72130800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:72127800-72130800	Active TSS	HMEC	breast
8	chr6:72127800-72130800	Active TSS	NH-A	brain
9	chr6:72127800-72131200	Active TSS	Brain Cingulate Gyrus	brain
10	chr6:72127800-72131200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:72127800-72131200	Active TSS	Psoas Muscle	Psoas
12	chr6:72127800-72131200	Active TSS	Right Atrium	heart
13	chr6:72127800-72131200	Active TSS	Right Ventricle	heart
14	chr6:72127800-72131400	Active TSS	Brain Hippocampus Middle	brain
15	chr6:72128000-72130400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:72128000-72130800	Active TSS	Fetal Kidney	kidney
17	chr6:72128000-72130800	Active TSS	HSMMtube	muscle
18	chr6:72128000-72131000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:72128000-72131000	Active TSS	NHLF	lung
20	chr6:72128000-72131200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:72128000-72131200	Active TSS	Colon Smooth Muscle	Colon
22	chr6:72128000-72131200	Active TSS	Hela-S3	cervix
23	chr6:72128000-72131400	Active TSS	A549	lung
24	chr6:72128200-72130800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:72128200-72131000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:72128200-72131000	Active TSS	Placenta	Placenta
27	chr6:72128200-72131000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:72128200-72131200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:72128200-72131200	Active TSS	Brain Substantia Nigra	brain
30	chr6:72128200-72131200	Active TSS	Fetal Stomach	stomach
31	chr6:72128400-72130800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:72128400-72131000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:72128400-72131200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:72128400-72131200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:72128400-72131200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:72128400-72131200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr6:72128600-72130800	Active TSS	HUVEC	blood vessel
38	chr6:72128600-72131000	Active TSS	NHEK	skin
39	chr6:72128600-72131200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:72128600-72131200	Active TSS	Aorta	Aorta
41	chr6:72128600-72131200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:72128600-72131200	Active TSS	Ovary	ovary
43	chr6:72128600-72131200	Active TSS	HSMM	muscle
44	chr6:72128600-72131400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:72128800-72130600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:72128800-72131000	Active TSS	Fetal Heart	heart
47	chr6:72128800-72131000	Active TSS	Lung	lung
48	chr6:72128800-72131000	Active TSS	NHDF-Ad	bronchial
49	chr6:72128800-72131000	Active TSS	Osteobl	bone
50	chr6:72128800-72131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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