Variant report

Variant	rs28498817
Chromosome Location	chr4:7848950-7848951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7845370..7847156-chr4:7848481..7850220,2	K562	blood:
2	chr4:7848719..7850223-chr4:7854337..7856293,2	K562	blood:
3	chr4:7847678..7850223-chr4:7853513..7856293,3	K562	blood:
4	chr4:7847228..7849126-chr4:7849365..7851826,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10005650	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10024625	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28425587	0.93[EUR][1000 genomes]
rs28434072	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28607438	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28668205	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28675899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28735181	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28735634	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28842326	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274847	0.81[ASN][1000 genomes]
rs4401450	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4488938	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61081420	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61214925	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6605361	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6820041	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6839086	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6842743	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71175434	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73073924	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73088591	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73088594	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73090508	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73090513	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73090514	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7376703	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7676488	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7691757	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7695510	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9330346	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9654093	0.81[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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825600-7852200	Weak transcription	Gastric	stomach
3	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
5	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
14	chr4:7836600-7855200	Weak transcription	Fetal Kidney	kidney
15	chr4:7840600-7853400	Weak transcription	Pancreas	Pancrea
16	chr4:7843400-7852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:7843600-7851200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:7845000-7849800	Genic enhancers	Osteobl	bone
20	chr4:7845000-7852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7845000-7856400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:7845200-7849400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:7845400-7852000	Weak transcription	Fetal Brain Female	brain
27	chr4:7845800-7850400	Weak transcription	Brain Germinal Matrix	brain
28	chr4:7846000-7852200	Weak transcription	Colonic Mucosa	Colon
29	chr4:7846200-7851200	Weak transcription	Fetal Lung	lung
30	chr4:7846200-7853800	Weak transcription	Stomach Mucosa	stomach
31	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
32	chr4:7846400-7850200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:7846400-7850600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:7846400-7850800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:7846400-7851000	Weak transcription	Ovary	ovary
36	chr4:7846400-7852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:7846400-7852200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:7846400-7852200	Weak transcription	Placenta	Placenta
39	chr4:7846400-7852200	Weak transcription	Lung	lung
40	chr4:7846400-7853400	Weak transcription	Right Atrium	heart
41	chr4:7846400-7857200	Weak transcription	Left Ventricle	heart
42	chr4:7846600-7850000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:7846600-7850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:7846600-7852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:7846600-7852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:7846600-7853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:7846600-7854200	Weak transcription	Brain Substantia Nigra	brain
48	chr4:7846800-7849000	Genic enhancers	A549	lung
49	chr4:7846800-7850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:7846800-7850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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