Variant report

Variant	rs58716620
Chromosome Location	chr19:37700695-37700696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:37700472-37700759	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56734971..56737597-chr19:37700185..37703092,2	MCF-7	breast:
2	chr19:37700159..37703141-chr19:37808841..37810702,2	MCF-7	breast:
3	chr19:37700501..37704644-chr19:37706690..37710773,7	K562	blood:
4	chr19:37699969..37703002-chr19:37707384..37710417,4	MCF-7	breast:
5	chr19:37699250..37701731-chr19:37707688..37710566,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267360	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000188283	Chromatin interaction
ENSG00000181666	Chromatin interaction
ENSG00000245680	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57138011	0.90[AFR][1000 genomes]
rs61047901	0.90[AFR][1000 genomes]
rs61525939	0.90[AFR][1000 genomes]
rs73624840	0.80[AFR][1000 genomes]
rs73624842	0.80[AFR][1000 genomes]
rs73624844	1.00[AFR][1000 genomes]
rs73627713	1.00[AFR][1000 genomes]
rs73627719	1.00[AFR][1000 genomes]
rs73627722	1.00[AFR][1000 genomes]
rs73627729	1.00[AFR][1000 genomes]
rs73627740	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
7	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
8	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
9	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:37689000-37701000	Weak transcription	Stomach Mucosa	stomach
11	chr19:37689400-37700800	Weak transcription	Psoas Muscle	Psoas
12	chr19:37690200-37701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37690200-37701000	Weak transcription	Fetal Kidney	kidney
14	chr19:37690400-37700800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:37696600-37701000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:37696800-37701000	Weak transcription	Small Intestine	intestine
17	chr19:37697000-37700800	Weak transcription	Brain Germinal Matrix	brain
18	chr19:37697000-37700800	Weak transcription	Fetal Thymus	thymus
19	chr19:37698000-37700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:37698000-37700800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:37698000-37700800	Weak transcription	Brain Anterior Caudate	brain
22	chr19:37698000-37700800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:37698000-37700800	Weak transcription	HSMM	muscle
24	chr19:37698200-37700800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:37698200-37700800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:37698200-37700800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:37698200-37700800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:37698200-37700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:37698200-37700800	Weak transcription	Brain Angular Gyrus	brain
30	chr19:37698200-37700800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:37698200-37700800	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:37698200-37700800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:37698200-37700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37698200-37700800	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:37698200-37700800	Weak transcription	Fetal Lung	lung
36	chr19:37698200-37700800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:37698200-37700800	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:37698200-37700800	Weak transcription	Placenta	Placenta
39	chr19:37698200-37700800	Weak transcription	Left Ventricle	heart
40	chr19:37698200-37700800	Weak transcription	NH-A	brain
41	chr19:37698200-37700800	Weak transcription	NHEK	skin
42	chr19:37698200-37700800	Weak transcription	NHLF	lung
43	chr19:37698200-37700800	Weak transcription	Osteobl	bone
44	chr19:37698200-37701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:37698200-37701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:37698200-37701000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:37698200-37701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:37698200-37701000	Weak transcription	Aorta	Aorta
49	chr19:37698200-37701000	Weak transcription	Brain Substantia Nigra	brain
50	chr19:37698200-37701000	Weak transcription	Esophagus	oesophagus

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