Variant report

Variant	rs73151585
Chromosome Location	chr4:56731843-56731844
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56462852..56464632-chr4:56730445..56733358,2	K562	blood:
2	chr4:56727001..56729322-chr4:56730712..56734877,3	K562	blood:
3	chr4:56718859..56722818-chr4:56731263..56734870,6	K562	blood:
4	chr4:56731182..56734054-chr4:56813038..56816658,3	K562	blood:
5	chr4:56719938..56721892-chr4:56731701..56734664,2	MCF-7	breast:
6	chr4:56727071..56728991-chr4:56730888..56733080,2	K562	blood:
7	chr4:56722903..56725254-chr4:56731032..56733800,2	K562	blood:
8	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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17086145	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17086148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17086170	0.96[AMR][1000 genomes]
rs1947131	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290015	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4865038	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56944300	0.89[EUR][1000 genomes]
rs73151562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73151582	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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:121 , 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	chr4:56721200-56732200	Weak transcription	Stomach Mucosa	stomach
12	chr4:56721400-56732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:56721400-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:56721600-56732800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
17	chr4:56721800-56734400	Weak transcription	Brain Angular Gyrus	brain
18	chr4:56721800-56734400	Weak transcription	Colonic Mucosa	Colon
19	chr4:56721800-56734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:56722000-56735800	Weak transcription	Fetal Brain Male	brain
21	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:56722400-56734000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:56722400-56734800	Weak transcription	Small Intestine	intestine
25	chr4:56722400-56735000	Weak transcription	Psoas Muscle	Psoas
26	chr4:56722600-56732400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:56723400-56732000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:56723600-56732200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:56723800-56732000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr4:56724200-56732200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:56724200-56734600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:56724400-56732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:56724400-56732000	Strong transcription	Liver	Liver
34	chr4:56724400-56732200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:56724600-56732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:56724600-56734800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:56725000-56734000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:56725000-56734000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:56725400-56734600	Weak transcription	Fetal Kidney	kidney
41	chr4:56725800-56732000	Strong transcription	Dnd41	blood
42	chr4:56725800-56732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:56726000-56732200	Strong transcription	Fetal Thymus	thymus
44	chr4:56727600-56732400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:56727600-56732600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:56727600-56734600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:56727600-56734600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:56727600-56734600	Weak transcription	Left Ventricle	heart
49	chr4:56727600-56734800	Weak transcription	Ovary	ovary
50	chr4:56727600-56736800	Weak transcription	HepG2	liver

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