Variant report

Variant	rs59458672
Chromosome Location	chr4:56732880-56732881
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56693482..56694037-chr4:56732799..56733387,2	K562	blood:
2	chr4:56462852..56464632-chr4:56730445..56733358,2	K562	blood:
3	chr4:56732780..56733548-chr4:56914397..56915335,2	K562	blood:
4	chr4:56310665..56311231-chr4:56732865..56733374,2	K562	blood:
5	chr4:56727001..56729322-chr4:56730712..56734877,3	K562	blood:
6	chr4:56718859..56722818-chr4:56731263..56734870,6	K562	blood:
7	chr4:56731182..56734054-chr4:56813038..56816658,3	K562	blood:
8	chr4:56719938..56721892-chr4:56731701..56734664,2	MCF-7	breast:
9	chr4:56685462..56686090-chr4:56732810..56733473,2	K562	blood:
10	chr4:56727071..56728991-chr4:56730888..56733080,2	K562	blood:
11	chr4:56722903..56725254-chr4:56731032..56733800,2	K562	blood:
12	chr4:56718974..56722726-chr4:56731263..56734718,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174799	Chromatin interaction
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57886922	1.00[EUR][1000 genomes]
rs58433550	1.00[EUR][1000 genomes]
rs61112573	1.00[EUR][1000 genomes]
rs73151561	1.00[EUR][1000 genomes]
rs73151574	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73155521	1.00[EUR][1000 genomes]
rs73155527	1.00[EUR][1000 genomes]
rs73155528	1.00[EUR][1000 genomes]
rs73155546	1.00[EUR][1000 genomes]
rs73155551	1.00[EUR][1000 genomes]
rs73155552	1.00[EUR][1000 genomes]
rs73155554	1.00[EUR][1000 genomes]
rs73155568	1.00[EUR][1000 genomes]
rs73155569	1.00[EUR][1000 genomes]
rs73155582	1.00[EUR][1000 genomes]
rs73155583	1.00[EUR][1000 genomes]
rs73155593	1.00[EUR][1000 genomes]
rs73155597	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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56734600	Weak transcription	Lung	lung
3	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
4	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
6	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:56721000-56734600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:56721000-56734600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
11	chr4:56721400-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
14	chr4:56721800-56734400	Weak transcription	Brain Angular Gyrus	brain
15	chr4:56721800-56734400	Weak transcription	Colonic Mucosa	Colon
16	chr4:56721800-56734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:56722000-56735800	Weak transcription	Fetal Brain Male	brain
18	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:56722400-56734000	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:56722400-56734800	Weak transcription	Small Intestine	intestine
22	chr4:56722400-56735000	Weak transcription	Psoas Muscle	Psoas
23	chr4:56724200-56734600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:56724600-56734800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:56725000-56734000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:56725000-56734000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:56725400-56734600	Weak transcription	Fetal Kidney	kidney
29	chr4:56727600-56734600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:56727600-56734600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:56727600-56734600	Weak transcription	Left Ventricle	heart
32	chr4:56727600-56734800	Weak transcription	Ovary	ovary
33	chr4:56727600-56736800	Weak transcription	HepG2	liver
34	chr4:56727600-56742400	Weak transcription	Right Ventricle	heart
35	chr4:56727800-56734400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:56728800-56734600	Weak transcription	Brain Anterior Caudate	brain
37	chr4:56729800-56734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:56729800-56734600	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:56729800-56734600	Weak transcription	Fetal Stomach	stomach
40	chr4:56729800-56734600	Weak transcription	Thymus	Thymus
41	chr4:56729800-56734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:56729800-56735200	Weak transcription	Gastric	stomach
43	chr4:56729800-56737200	Weak transcription	Fetal Intestine Small	intestine
44	chr4:56730200-56734400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:56730200-56734600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:56730200-56734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:56730400-56734600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:56730600-56734600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:56730600-56734600	Weak transcription	K562	blood
50	chr4:56731000-56733200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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