Variant report

Variant	rs73047085
Chromosome Location	chr19:41308415-41308416
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	POLR2A	chr19:41307602-41308421	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:41307829-41308541	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:41307677-41309301	HUVEC	blood vessel:	n/a	n/a
4	SPI1	chr19:41308082-41308545	HL-60	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
5	SPI1	chr19:41308130-41308454	GM12878	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
6	POLR2A	chr19:41307692-41309535	SK-N-MC	brain:	n/a	n/a
7	MAX	chr19:41308408-41308647	K562	blood:	n/a	n/a
8	SPI1	chr19:41308039-41308648	GM12878	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
9	SPI1	chr19:41308166-41308446	GM12891	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
10	POLR2A	chr19:41308407-41313533	K562	blood:	n/a	n/a
11	POLR2A	chr19:41307117-41318353	K562	blood:	n/a	n/a
12	POLR2A	chr19:41307663-41316128	GM12892	blood:	n/a	n/a
13	SPI1	chr19:41308132-41308483	GM12891	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
14	POLR2A	chr19:41307696-41309307	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:41307934-41308619	K562	blood:	n/a	n/a
16	POLR2A	chr19:41307671-41311968	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:41307742-41308421	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:41307768-41311357	K562	blood:	n/a	n/a
19	POLR2A	chr19:41307876-41312060	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:41307781-41314972	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:41308008-41309001	PANC-1	pancreas:	n/a	n/a
22	SPI1	chr19:41308236-41308433	K562	blood:	n/a	chr19:41308345-41308358 chr19:41308318-41308327 chr19:41308347-41308354
23	POLR2A	chr19:41307556-41311130	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:41307711-41308421	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:41307640-41313313	K562	blood:	n/a	n/a
26	POLR2A	chr19:41307839-41311076	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41220581..41222873-chr19:41307320..41309933,2	MCF-7	breast:
2	chr19:41282962..41284842-chr19:41308232..41310693,2	MCF-7	breast:
3	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
4	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:
5	chr19:41307021..41309215-chr19:41770332..41772001,2	MCF-7	breast:
6	chr19:41220369..41226479-chr19:41305318..41310706,7	K562	blood:
7	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
8	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
9	chr19:41115624..41118176-chr19:41306706..41309360,2	MCF-7	breast:
10	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:

Variant related genes	Relation type
EGLN2	TF binding region
ENSG00000171570	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11665867	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665953	1.00[ASN][1000 genomes]
rs11666504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667119	1.00[ASN][1000 genomes]
rs11667931	1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077407	1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	1.00[ASN][1000 genomes]
rs4624303	1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	1.00[ASN][1000 genomes]
rs56041558	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7253575	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	1.00[ASN][1000 genomes]
rs73035918	1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047073	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048915	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048925	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41305800-41309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41305800-41316200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:41306000-41308800	Transcr. at gene 5' and 3'	A549	lung
4	chr19:41306000-41309000	Transcr. at gene 5' and 3'	Placenta	Placenta
5	chr19:41306000-41309200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:41306000-41309200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
7	chr19:41306000-41310400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr19:41306000-41311800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:41306200-41308600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr19:41306200-41308800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:41306200-41308800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:41306200-41309000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:41306200-41309200	Transcr. at gene 5' and 3'	NHLF	lung
14	chr19:41306200-41309400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
15	chr19:41306200-41309600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
16	chr19:41306200-41309800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr19:41306200-41309800	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr19:41306200-41310200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:41306200-41311200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
20	chr19:41306200-41313200	Enhancers	Fetal Heart	heart
21	chr19:41306400-41308600	Genic enhancers	Placenta Amnion	Placenta Amnion
22	chr19:41306400-41308600	Enhancers	Stomach Mucosa	stomach
23	chr19:41306400-41308800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
24	chr19:41306400-41309200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:41306400-41309200	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr19:41306400-41309800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:41306400-41310000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr19:41306400-41311200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
29	chr19:41306400-41313600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:41306400-41313800	Genic enhancers	Fetal Thymus	thymus
31	chr19:41306400-41316200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:41306400-41316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:41306600-41309200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:41306600-41309200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
35	chr19:41306600-41309200	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr19:41306600-41309600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
37	chr19:41306600-41310000	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:41306600-41310200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
39	chr19:41306600-41310400	Genic enhancers	H1 Cell Line	embryonic stem cell
40	chr19:41306600-41311200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
41	chr19:41306600-41311800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr19:41306600-41312400	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr19:41306600-41314000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:41306600-41314800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:41306800-41310600	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr19:41306800-41311200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:41306800-41312200	Weak transcription	HSMMtube	muscle
48	chr19:41306800-41313400	Genic enhancers	Gastric	stomach
49	chr19:41307000-41308800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
50	chr19:41307000-41309200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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