Variant report

Variant	rs59263503
Chromosome Location	chr7:104662417-104662418
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	chr7:104661691..104664567-chr7:104734113..104735881,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2073550	1.00[EUR][1000 genomes]
rs2240456	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299296	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299300	1.00[EUR][1000 genomes]
rs2299301	1.00[EUR][1000 genomes]
rs2430481	1.00[EUR][1000 genomes]
rs3735378	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56300169	1.00[EUR][1000 genomes]
rs56654846	1.00[EUR][1000 genomes]
rs56663357	1.00[ASN][1000 genomes]
rs56851478	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57492989	1.00[EUR][1000 genomes]
rs58469240	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58527692	1.00[EUR][1000 genomes]
rs59171738	0.90[ASN][1000 genomes]
rs59242356	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59290277	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59494471	0.93[ASN][1000 genomes]
rs60808750	0.93[ASN][1000 genomes]
rs61383544	1.00[EUR][1000 genomes];0.97[ASN][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656200-104667800	Weak transcription	Gastric	stomach
2	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:104656800-104667600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:104658400-104663600	Enhancers	Fetal Brain Male	brain
5	chr7:104658600-104663600	Enhancers	Liver	Liver
6	chr7:104658600-104664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:104658600-104665200	Weak transcription	Fetal Intestine Large	intestine
8	chr7:104658600-104665600	Weak transcription	Colonic Mucosa	Colon
9	chr7:104658600-104671800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:104658600-104673000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:104658600-104674000	Weak transcription	Fetal Thymus	thymus
12	chr7:104658600-104674200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:104658800-104665200	Weak transcription	Aorta	Aorta
16	chr7:104658800-104671600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
18	chr7:104659000-104663600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:104659000-104664800	Weak transcription	HMEC	breast
20	chr7:104659200-104663000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:104659400-104664400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:104659400-104671400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:104659600-104663000	Enhancers	Brain Angular Gyrus	brain
24	chr7:104659600-104667200	Enhancers	Adipose Nuclei	Adipose
25	chr7:104659600-104671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:104659800-104664000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:104659800-104665000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:104659800-104666200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:104660000-104662600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr7:104660000-104662600	Enhancers	Small Intestine	intestine
32	chr7:104660000-104663000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:104660000-104664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:104660000-104664800	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:104660200-104662600	Enhancers	Stomach Mucosa	stomach
36	chr7:104660400-104664200	Weak transcription	A549	lung
37	chr7:104660400-104667000	Enhancers	HepG2	liver
38	chr7:104660400-104668600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:104660600-104663000	Enhancers	NHLF	lung
40	chr7:104660600-104663200	Enhancers	NHDF-Ad	bronchial
41	chr7:104660600-104663800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:104660800-104662600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:104660800-104663200	Enhancers	HUVEC	blood vessel
44	chr7:104660800-104664800	Weak transcription	K562	blood
45	chr7:104660800-104667600	Weak transcription	Right Atrium	heart
46	chr7:104661000-104664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:104661000-104665200	Weak transcription	Psoas Muscle	Psoas
48	chr7:104661000-104667600	Weak transcription	Lung	lung
49	chr7:104661000-104667600	Weak transcription	Pancreas	Pancrea
50	chr7:104661000-104667800	Enhancers	Primary neutrophils fromperipheralblood	blood

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