Variant report

Variant	rs10518442
Chromosome Location	chr4:125594268-125594269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125590937..125593112-chr4:125594242..125596673,2	K562	blood:
2	chr4:125582134..125584431-chr4:125593027..125594996,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10006577	0.85[ASN][1000 genomes]
rs10006893	0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10013174	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10018651	0.85[ASN][1000 genomes]
rs10028864	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1015968	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1016382	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs1016383	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12331436	0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13104292	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13107141	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13110120	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110982	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117832	0.85[ASN][1000 genomes]
rs13130626	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150707	0.91[ASN][1000 genomes]
rs1472290	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495126	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495127	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1498024	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995135	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2036204	0.85[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs220738	0.85[ASN][1000 genomes]
rs2242378	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399027	0.87[ASN][1000 genomes]
rs3172524	0.92[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34348208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748024	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34877613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35053443	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35180555	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35282937	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35333384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35463553	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35958270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36177260	0.85[ASN][1000 genomes]
rs3733471	0.85[ASN][1000 genomes]
rs4833999	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4834000	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902532	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59841071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6534448	0.85[ASN][1000 genomes]
rs6815682	0.91[ASN][1000 genomes]
rs6816263	0.92[CHB][hapmap];0.97[ASN][1000 genomes]
rs6849375	0.91[ASN][1000 genomes]
rs6849813	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307543	0.85[ASN][1000 genomes]
rs9307544	0.85[ASN][1000 genomes]
rs9999425	0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518442	ANKRD50	cis	parietal	SCAN
rs10518442	NUDT6	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125583400-125595000	Strong transcription	HUVEC	blood vessel
2	chr4:125586800-125594400	Strong transcription	HSMM	muscle
3	chr4:125587000-125595000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:125587000-125597200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:125587000-125601000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:125587200-125594800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:125587200-125594800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:125587400-125594800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:125587800-125595200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:125588000-125595000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:125589000-125595200	Strong transcription	Placenta	Placenta
12	chr4:125589600-125594600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:125589800-125595000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:125589800-125595000	Strong transcription	NH-A	brain
15	chr4:125590000-125594800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:125590600-125594600	Strong transcription	A549	lung
17	chr4:125590600-125605600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:125591200-125594800	Strong transcription	Dnd41	blood
19	chr4:125592400-125595800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:125592400-125611400	Weak transcription	HepG2	liver
21	chr4:125592800-125594600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:125593000-125596600	Weak transcription	Right Ventricle	heart
23	chr4:125593000-125597800	Weak transcription	Fetal Intestine Small	intestine
24	chr4:125593000-125601400	Weak transcription	Spleen	Spleen
25	chr4:125593000-125605600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:125593000-125606200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:125593000-125608400	Weak transcription	Pancreas	Pancrea
28	chr4:125593000-125618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:125593000-125621800	Weak transcription	Fetal Stomach	stomach
30	chr4:125593000-125631200	Weak transcription	Esophagus	oesophagus
31	chr4:125593200-125594400	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:125593200-125600600	Weak transcription	Fetal Heart	heart
33	chr4:125593200-125602200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:125593200-125605600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:125593200-125606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:125593200-125607400	Weak transcription	Gastric	stomach
37	chr4:125593200-125607800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:125593200-125608800	Weak transcription	Colonic Mucosa	Colon
39	chr4:125593200-125609000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:125593400-125594400	Weak transcription	Brain Angular Gyrus	brain
41	chr4:125593400-125595000	Weak transcription	Brain Substantia Nigra	brain
42	chr4:125593400-125595200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:125593400-125596200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:125593400-125596400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:125593400-125598800	Weak transcription	Fetal Brain Female	brain
46	chr4:125593400-125599400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:125593400-125600200	Weak transcription	Primary B cells from cord blood	blood
48	chr4:125593400-125600200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:125593400-125601000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:125593400-125601200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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