Variant report

Variant	rs73576327
Chromosome Location	chr6:142622167-142622168
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	GATA2	chr6:142621672-142622536	HUVEC	blood vessel:	n/a	chr6:142622241-142622249 chr6:142621769-142621778
2	SMARCC1	chr6:142621664-142623934	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:142621828-142622670	Hela-S3	cervix:	n/a	n/a
4	REST	chr6:142621984-142622671	A549	lung:	n/a	n/a
5	FOXA2	chr6:142621997-142622383	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:142621261-142624876	PANC-1	pancreas:	n/a	n/a
7	MAX	chr6:142622049-142622350	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:142621379-142624744	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr6:142621597-142622549	SK-N-SH	brain:	n/a	n/a
10	FOS	chr6:142621739-142622444	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr6:142621821-142622405	Hela-S3	cervix:	n/a	n/a
12	FOS	chr6:142621765-142622263	HUVEC	blood vessel:	n/a	n/a
13	USF2	chr6:142621760-142622463	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:142621846-142622277	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr6:142621686-142623227	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr6:142621656-142624313	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:142621895-142623437	HUVEC	blood vessel:	n/a	n/a
18	ARID3A	chr6:142622007-142622355	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:142621685-142623763	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr6:142621679-142624627	HepG2	liver:	n/a	chr6:142622591-142622601
21	SMC3	chr6:142621618-142622467	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr6:142621638-142622544	SK-N-SH	brain:	n/a	n/a
23	MAX	chr6:142621741-142624053	HCT-116	colon:	n/a	chr6:142622591-142622601
24	HA-E2F1	chr6:142622109-142624108	MCF-7	breast:	n/a	n/a
25	FOXA2	chr6:142621749-142624322	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:142621993-142622526	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:142622032-142622282	MCF-7	breast:	n/a	n/a
28	GATA3	chr6:142621495-142622713	SK-N-SH	brain:	n/a	chr6:142622241-142622249 chr6:142621769-142621778
29	CHD2	chr6:142621589-142622479	Hela-S3	cervix:	n/a	n/a
30	STAT3	chr6:142621534-142622429	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:142622127-142622470	A549	lung:	n/a	n/a
32	FOXA1	chr6:142622075-142622396	T-47D	breast:	n/a	n/a
33	MAFK	chr6:142622127-142622277	HepG2	liver:	n/a	n/a
34	MAX	chr6:142621907-142622673	A549	lung:	n/a	chr6:142622591-142622601
35	POLR2A	chr6:142621954-142623404	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr6:142621374-142624737	HUVEC	blood vessel:	n/a	n/a
37	PBX3	chr6:142621686-142622495	SK-N-SH	brain:	n/a	n/a
38	FOSL2	chr6:142621689-142622421	A549	lung:	n/a	n/a
39	SIN3AK20	chr6:142621856-142622436	A549	lung:	n/a	n/a
40	MAX	chr6:142621905-142622551	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:142621944-142622606	PFSK-1	brain:	n/a	n/a
42	MXI1	chr6:142621862-142622501	Hela-S3	cervix:	n/a	n/a
43	FOS	chr6:142621658-142622356	MCF10A-Er-Src	breast:	n/a	n/a
44	TAF1	chr6:142622051-142622463	SK-N-SH	brain:	n/a	n/a
45	SP1	chr6:142621750-142622467	A549	lung:	n/a	n/a
46	EP300	chr6:142621712-142622240	SK-N-SH_RA	brain:	n/a	n/a
47	POLR2A	chr6:142622104-142622599	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:142621957-142622490	Hela-S3	cervix:	n/a	n/a
49	MAX	chr6:142621554-142623878	Hela-S3	cervix:	n/a	chr6:142622591-142622601
50	EP300	chr6:142621593-142622518	A549	lung:	n/a	n/a

Variant related genes	Relation type
GPR126	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57244265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59280767	0.92[AMR][1000 genomes]
rs59648555	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60258191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61299002	0.84[AMR][1000 genomes]
rs6905012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920468	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6920602	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6926685	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576330	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275340	chr6:142620405-142624568	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr6:142619200-142622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:142619600-142622200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:142619600-142622200	Weak transcription	NHDF-Ad	bronchial
4	chr6:142620000-142622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:142620400-142622200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:142620600-142622200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:142621400-142622400	Flanking Active TSS	Hela-S3	cervix
8	chr6:142621600-142622200	Flanking Active TSS	A549	lung
9	chr6:142621600-142622200	Flanking Active TSS	HepG2	liver
10	chr6:142621600-142622400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:142621600-142622600	Flanking Active TSS	Liver	Liver
12	chr6:142621600-142622600	Flanking Active TSS	HUVEC	blood vessel
13	chr6:142621800-142622200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:142621800-142622200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:142621800-142622400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:142621800-142622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:142621800-142622400	Flanking Active TSS	Fetal Lung	lung
18	chr6:142621800-142622400	Flanking Active TSS	HMEC	breast
19	chr6:142621800-142622600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:142621800-142622600	Enhancers	Fetal Heart	heart
21	chr6:142621800-142623000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:142621800-142625600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:142622000-142622200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
24	chr6:142622000-142622200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:142622000-142622200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr6:142622000-142622200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:142622000-142622200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:142622000-142622200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:142622000-142622200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:142622000-142622200	Enhancers	Colonic Mucosa	Colon
31	chr6:142622000-142622200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr6:142622000-142622200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr6:142622000-142622200	Flanking Active TSS	Fetal Brain Male	brain
34	chr6:142622000-142622200	Enhancers	Fetal Brain Female	brain
35	chr6:142622000-142622200	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr6:142622000-142622200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:142622000-142622200	Enhancers	Gastric	stomach
38	chr6:142622000-142622200	Bivalent Enhancer	Left Ventricle	heart
39	chr6:142622000-142622200	Enhancers	Pancreas	Pancrea
40	chr6:142622000-142622200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:142622000-142622200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr6:142622000-142622200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr6:142622000-142622200	Flanking Active TSS	HSMMtube	muscle
44	chr6:142622000-142622200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr6:142622000-142622200	Enhancers	NH-A	brain
46	chr6:142622000-142622200	Active TSS	NHEK	skin
47	chr6:142622000-142622400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:142622000-142622400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:142622000-142622400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr6:142622000-142622400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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