Variant report

Variant	rs58735454
Chromosome Location	chr4:120466355-120466356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:

Variant related genes	Relation type
ENSG00000138735	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10013852	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021469	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434030	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434031	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434032	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10518332	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10518333	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051276	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051278	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17355550	0.86[AMR][1000 genomes]
rs17357002	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357499	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17358475	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17359764	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17359910	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17360333	0.83[EUR][1000 genomes]
rs2389872	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389876	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389877	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389878	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389884	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953290	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4102980	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41278071	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4146266	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833621	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58613543	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59601296	1.00[AFR][1000 genomes]
rs61104134	1.00[AFR][1000 genomes]
rs61729962	0.90[AFR][1000 genomes]
rs6534145	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534148	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831062	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72922580	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72922588	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72922598	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180145	0.90[ASN][1000 genomes]
rs8180147	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
3	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
4	chr4:120434600-120474400	Weak transcription	Gastric	stomach
5	chr4:120435000-120473200	Weak transcription	Esophagus	oesophagus
6	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
7	chr4:120436200-120473800	Weak transcription	Fetal Brain Female	brain
8	chr4:120436600-120471600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:120436800-120474000	Weak transcription	Thymus	Thymus
10	chr4:120437600-120474200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:120437800-120479200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:120438200-120484800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:120439400-120474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:120440000-120474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:120440600-120478200	Weak transcription	Primary B cells from cord blood	blood
16	chr4:120441200-120476200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:120441600-120472600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:120442200-120474200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:120442800-120484600	Weak transcription	Psoas Muscle	Psoas
20	chr4:120447400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:120448000-120484800	Weak transcription	Fetal Heart	heart
22	chr4:120449400-120473600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:120451600-120485200	Weak transcription	Brain Angular Gyrus	brain
24	chr4:120455600-120483800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:120456200-120488800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:120456400-120471600	Weak transcription	Dnd41	blood
27	chr4:120456400-120472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:120456400-120473000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:120456400-120484400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:120456400-120484800	Weak transcription	Liver	Liver
31	chr4:120456600-120473800	Weak transcription	Fetal Thymus	thymus
32	chr4:120456600-120484600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:120456600-120484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:120458200-120472000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:120458200-120472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:120458200-120484600	Weak transcription	Fetal Intestine Small	intestine
37	chr4:120458400-120472200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:120458800-120466800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:120458800-120472000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:120458800-120472200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:120458800-120472200	Weak transcription	GM12878-XiMat	blood
42	chr4:120459400-120471600	Weak transcription	Fetal Stomach	stomach
43	chr4:120459400-120485400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:120459400-120491600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:120459600-120474200	Weak transcription	Adipose Nuclei	Adipose
46	chr4:120459800-120471600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:120459800-120471600	Weak transcription	Placenta	Placenta
48	chr4:120460200-120474200	Weak transcription	Fetal Kidney	kidney
49	chr4:120460800-120471200	Weak transcription	Aorta	Aorta
50	chr4:120462200-120470200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links