Variant report

Variant	rs10073740
Chromosome Location	chr5:50259799-50259800
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	chr5:50252384..50255461-chr5:50257528..50260468,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs166088	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs250221	0.81[AMR][1000 genomes]
rs250222	0.84[AMR][1000 genomes]
rs250244	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs250245	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4484387	0.86[AMR][1000 genomes]
rs588023	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs601549	0.92[AMR][1000 genomes];0.89[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	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50258600-50261600	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:50258600-50266600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:50258800-50259800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
4	chr5:50258800-50259800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:50258800-50259800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:50258800-50260000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr5:50258800-50260000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:50258800-50260000	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr5:50258800-50260200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:50258800-50260200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr5:50258800-50260400	Active TSS	Right Atrium	heart
12	chr5:50259000-50259800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr5:50259000-50259800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:50259000-50259800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:50259000-50259800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:50259000-50259800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:50259000-50259800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
18	chr5:50259000-50259800	Active TSS	Gastric	stomach
19	chr5:50259000-50259800	Active TSS	Psoas Muscle	Psoas
20	chr5:50259000-50259800	Bivalent/Poised TSS	Right Ventricle	heart
21	chr5:50259000-50260000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:50259000-50260000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:50259000-50260000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr5:50259000-50260000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:50259000-50260000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:50259000-50260000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:50259000-50260000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr5:50259000-50260000	Bivalent/Poised TSS	Aorta	Aorta
29	chr5:50259000-50260000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr5:50259000-50260000	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr5:50259000-50260000	Bivalent/Poised TSS	Thymus	Thymus
32	chr5:50259000-50260200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:50259000-50260200	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr5:50259000-50260400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:50259000-50260400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:50259000-50260400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:50259000-50260400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:50259000-50260400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
39	chr5:50259000-50260400	Enhancers	Lung	lung
40	chr5:50259000-50260400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr5:50259000-50260600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr5:50259200-50259800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:50259200-50259800	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr5:50259200-50259800	Bivalent Enhancer	Small Intestine	intestine
45	chr5:50259200-50260200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:50259200-50260400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
47	chr5:50259400-50259800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr5:50259400-50259800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
49	chr5:50259400-50259800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr5:50259400-50260000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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