Variant report

Variant	rs4689056
Chromosome Location	chr4:6930416-6930417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6720666..6722228-chr4:6930174..6933123,2	K562	blood:
2	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:
3	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11938701	0.84[AMR][1000 genomes]
rs12503027	0.84[AMR][1000 genomes]
rs12512484	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108082	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13111887	0.80[ASN][1000 genomes]
rs13115245	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13122119	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13141777	0.84[AMR][1000 genomes]
rs13144485	0.83[AMR][1000 genomes]
rs13148395	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13149411	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13149923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301818	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301819	0.86[ASN][1000 genomes]
rs34221933	0.93[EUR][1000 genomes]
rs34335938	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34379427	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463709	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34481892	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34860182	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953654	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34959511	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34990775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35170004	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35680216	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3894945	0.84[AMR][1000 genomes]
rs4234788	0.80[ASN][1000 genomes]
rs4234791	0.86[ASN][1000 genomes]
rs4544710	0.87[EUR][1000 genomes]
rs4689560	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689563	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689564	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689565	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62289166	0.86[AMR][1000 genomes]
rs6446559	0.80[ASN][1000 genomes]
rs66530709	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66640699	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66841627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66931928	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66992702	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6811496	0.84[AMR][1000 genomes]
rs6816660	0.80[ASN][1000 genomes]
rs6818744	0.84[AMR][1000 genomes]
rs6840780	0.92[EUR][1000 genomes]
rs7655773	0.93[EUR][1000 genomes]
rs7661952	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv980396	chr4:6929613-6942211	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
5	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
6	chr4:6925800-6931400	Weak transcription	HSMMtube	muscle
7	chr4:6926000-6930600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:6926200-6930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:6926200-6942600	Weak transcription	NHEK	skin
11	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:6926600-6930800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:6926600-6930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:6926600-6931000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:6926600-6932200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:6926600-6933400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:6926600-6935000	Enhancers	Liver	Liver
18	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:6926800-6930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:6926800-6932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:6927000-6930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:6927200-6932200	Enhancers	Adipose Nuclei	Adipose
23	chr4:6927200-6932200	Genic enhancers	Thymus	Thymus
24	chr4:6927600-6931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:6927600-6931600	Enhancers	Right Atrium	heart
26	chr4:6927600-6932200	Enhancers	Placenta	Placenta
27	chr4:6927800-6930800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:6927800-6931400	Genic enhancers	Fetal Intestine Small	intestine
29	chr4:6928000-6930600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:6928000-6931000	Weak transcription	Fetal Brain Female	brain
31	chr4:6928000-6931200	Enhancers	Colonic Mucosa	Colon
32	chr4:6928000-6931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:6928000-6932000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:6928000-6932200	Enhancers	Brain Anterior Caudate	brain
35	chr4:6928000-6932200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:6928000-6932400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:6928000-6932400	Enhancers	Fetal Thymus	thymus
38	chr4:6928000-6933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:6928000-6934600	Weak transcription	Esophagus	oesophagus
40	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
44	chr4:6928200-6930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:6928200-6931200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr4:6928200-6931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:6928400-6930600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:6928600-6932200	Enhancers	Fetal Muscle Leg	muscle
49	chr4:6928600-6932200	Enhancers	Left Ventricle	heart
50	chr4:6928600-6932400	Enhancers	Skeletal Muscle Male	skeletal muscle

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