Variant report

Variant	rs59684133
Chromosome Location	chr4:76607427-76607428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76597748..76600318-chr4:76605749..76608263,3	K562	blood:
2	chr4:76596307..76600318-chr4:76606592..76610261,3	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1801838	0.81[AFR][1000 genomes]
rs2017607	0.91[AFR][1000 genomes]
rs2037012	0.81[AFR][1000 genomes]
rs324706	1.00[ASN][1000 genomes]
rs55745971	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56728961	0.87[AFR][1000 genomes]
rs58822138	0.86[AFR][1000 genomes]
rs60332325	0.84[AFR][1000 genomes]
rs6818849	0.88[AFR][1000 genomes]
rs6823013	0.84[AFR][1000 genomes]
rs6841290	0.84[AFR][1000 genomes]
rs6843244	0.84[AFR][1000 genomes]
rs72647501	0.84[EUR][1000 genomes]
rs72649420	0.81[AFR][1000 genomes]
rs72649445	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649456	0.93[EUR][1000 genomes];1.00[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	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599000-76619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:76599000-76620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:76599200-76620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
5	chr4:76599400-76613000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:76599400-76617400	Weak transcription	Fetal Stomach	stomach
7	chr4:76599400-76619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:76599400-76620400	Weak transcription	Left Ventricle	heart
9	chr4:76599600-76607800	Weak transcription	Fetal Thymus	thymus
10	chr4:76599600-76608200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:76599600-76608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:76599600-76610800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:76599600-76611200	Weak transcription	HSMMtube	muscle
14	chr4:76599600-76611400	Weak transcription	HSMM	muscle
15	chr4:76599600-76612200	Weak transcription	Brain Germinal Matrix	brain
16	chr4:76599600-76615600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:76599600-76621600	Weak transcription	Fetal Lung	lung
18	chr4:76599600-76623400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:76599600-76624000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
24	chr4:76599800-76608200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:76599800-76610800	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:76599800-76611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:76599800-76612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:76599800-76612600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:76599800-76612600	Weak transcription	A549	lung
30	chr4:76599800-76613000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:76599800-76613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:76599800-76619800	Weak transcription	Liver	Liver
33	chr4:76599800-76621200	Weak transcription	HepG2	liver
34	chr4:76599800-76627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:76600600-76608200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:76600600-76627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:76600800-76612000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:76603600-76612000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:76603600-76617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:76604800-76612400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:76605000-76608200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:76605200-76611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:76605800-76607800	Weak transcription	Primary T cells from cord blood	blood
45	chr4:76605800-76612000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:76605800-76612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:76605800-76623400	Weak transcription	K562	blood
48	chr4:76605800-76633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:76606000-76610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:76606000-76610400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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