Variant report

Variant	rs59649666
Chromosome Location	chr5:95219581-95219582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95218349..95221486-chr5:95224324..95227675,3	K562	blood:
2	chr5:95195726..95197557-chr5:95217923..95219650,2	MCF-7	breast:
3	chr5:95218170..95220119-chr5:95292473..95294131,2	MCF-7	breast:
4	chr5:95214888..95216647-chr5:95219513..95221406,2	K562	blood:

Variant related genes	Relation type
ENSG00000250362	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17085255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085286	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3777187	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3777195	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57584041	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58029921	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58030063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61278429	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95210200-95220000	Weak transcription	Right Ventricle	heart
2	chr5:95210600-95221800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:95212600-95219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
9	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:95214600-95222000	Weak transcription	Left Ventricle	heart
12	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:95215200-95223600	Weak transcription	A549	lung
17	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:95215400-95219600	Weak transcription	Fetal Intestine Small	intestine
19	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:95216200-95221600	Enhancers	HepG2	liver
23	chr5:95216200-95222000	Weak transcription	Fetal Thymus	thymus
24	chr5:95216600-95220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:95216600-95222000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
27	chr5:95216800-95223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:95217000-95223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:95217800-95225600	Weak transcription	Lung	lung
30	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:95218000-95220800	Genic enhancers	Muscle Satellite Cultured Cells	--
32	chr5:95218000-95221000	Weak transcription	NH-A	brain
33	chr5:95218000-95222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
36	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
38	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
39	chr5:95218200-95221800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:95218200-95224400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
43	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:95218400-95219800	Weak transcription	NHLF	lung
45	chr5:95218600-95219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:95218800-95219600	Enhancers	Gastric	stomach
47	chr5:95218800-95220000	Strong transcription	HSMM	muscle
48	chr5:95218800-95220200	Enhancers	Placenta	Placenta
49	chr5:95218800-95220800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:95218800-95221400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links