Variant report

Variant	rs40059
Chromosome Location	chr5:74964582-74964583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74952495..74954524-chr5:74962216..74966504,3	K562	blood:
2	chr5:74804574..74807080-chr5:74963425..74964973,2	K562	blood:
3	chr5:74959970..74961673-chr5:74963157..74964976,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10462356	0.85[EUR][1000 genomes]
rs10462521	0.84[EUR][1000 genomes]
rs11746063	0.83[EUR][1000 genomes]
rs11748378	0.83[EUR][1000 genomes]
rs166183	0.85[EUR][1000 genomes]
rs16872772	0.81[YRI][hapmap]
rs17563686	0.85[EUR][1000 genomes]
rs17563863	0.84[EUR][1000 genomes]
rs17649055	0.85[EUR][1000 genomes]
rs1817869	0.84[EUR][1000 genomes]
rs193344	0.85[EUR][1000 genomes]
rs194137	0.87[EUR][1000 genomes]
rs2047059	0.85[EUR][1000 genomes]
rs2307113	0.84[EUR][1000 genomes]
rs253388	0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs253389	0.85[EUR][1000 genomes]
rs253390	0.85[EUR][1000 genomes]
rs34356	0.84[JPT][hapmap]
rs34905687	0.84[EUR][1000 genomes]
rs41534344	0.84[EUR][1000 genomes]
rs4703679	0.82[EUR][1000 genomes]
rs4704231	0.85[EUR][1000 genomes]
rs4704234	0.84[EUR][1000 genomes]
rs59778668	0.82[EUR][1000 genomes]
rs60134294	0.82[EUR][1000 genomes]
rs60423072	0.84[EUR][1000 genomes]
rs61173369	0.80[EUR][1000 genomes]
rs66493518	0.85[EUR][1000 genomes]
rs67054144	0.84[EUR][1000 genomes]
rs67803720	0.85[EUR][1000 genomes]
rs6867386	0.81[YRI][hapmap]
rs6868069	0.83[EUR][1000 genomes]
rs6879267	0.80[YRI][hapmap]
rs72633978	0.81[EUR][1000 genomes]
rs72633979	0.85[EUR][1000 genomes]
rs7381033	0.82[EUR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
2	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:74956000-74965000	Weak transcription	NHEK	skin
4	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:74958000-74964600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:74959200-74965200	Enhancers	Brain Substantia Nigra	brain
9	chr5:74960200-74968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:74960800-74965400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:74961000-74976800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:74961200-74964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:74961200-74965000	Enhancers	Brain Hippocampus Middle	brain
15	chr5:74961200-74968000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:74962000-74979400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:74962200-74965200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:74962800-74964600	Strong transcription	Fetal Intestine Large	intestine
19	chr5:74962800-74964800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:74962800-74964800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:74963000-74964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:74963000-74964800	Enhancers	Brain Anterior Caudate	brain
23	chr5:74963000-74966000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
25	chr5:74963200-74964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:74963200-74965000	Enhancers	Brain Angular Gyrus	brain
27	chr5:74963200-74965000	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:74963200-74965400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:74963200-74976600	Weak transcription	HMEC	breast
30	chr5:74963400-74968600	Weak transcription	Fetal Lung	lung
31	chr5:74963400-74968600	Weak transcription	Ovary	ovary
32	chr5:74963600-74964800	Weak transcription	Right Atrium	heart
33	chr5:74963800-74968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:74964000-74964600	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:74964000-74964600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:74964000-74964600	Enhancers	HUVEC	blood vessel
37	chr5:74964000-74964800	Genic enhancers	Fetal Intestine Small	intestine
38	chr5:74964000-74965800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:74964000-74968200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:74964200-74964600	Enhancers	Duodenum Mucosa	Duodenum
41	chr5:74964200-74964800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:74964200-74964800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:74964200-74964800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:74964200-74964800	Enhancers	Right Ventricle	heart
45	chr5:74964200-74964800	Enhancers	K562	blood
46	chr5:74964200-74965200	Enhancers	Brain Germinal Matrix	brain
47	chr5:74964200-74965200	Enhancers	Fetal Muscle Trunk	muscle
48	chr5:74964200-74965400	Enhancers	Fetal Muscle Leg	muscle
49	chr5:74964200-74965400	Enhancers	Lung	lung
50	chr5:74964200-74965600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links