Variant report

Variant	rs2250108
Chromosome Location	chr12:106716049-106716050
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106699658..106701808-chr12:106715464..106717408,2	K562	blood:
2	chr12:106699658..106703217-chr12:106715464..106718828,3	K562	blood:
3	chr12:106715687..106717265-chr12:106725114..106726618,2	MCF-7	breast:
4	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:
5	chr12:106679091..106681654-chr12:106715669..106717926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10861572	0.83[ASN][1000 genomes]
rs10861574	0.87[ASN][1000 genomes]
rs10861575	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112931	0.82[ASN][1000 genomes]
rs11112940	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs11112942	0.85[AFR][1000 genomes]
rs11112943	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs1532587	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17284674	0.96[YRI][hapmap]
rs1921952	0.84[ASW][hapmap];0.87[LWK][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs1921953	0.92[ASN][1000 genomes]
rs2077730	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244958	0.81[CEU][hapmap]
rs2249837	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250705	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2250708	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250709	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250713	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2250936	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264757	0.96[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264762	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2264814	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2264815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264816	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279759	0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2465356	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28669886	0.85[AFR][1000 genomes]
rs2888888	0.84[ASW][hapmap];0.87[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs35816179	0.83[ASN][1000 genomes]
rs36139467	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60224628	0.85[AFR][1000 genomes]
rs61940334	0.84[AFR][1000 genomes]
rs7314289	0.83[ASN][1000 genomes]
rs7961133	0.84[ASW][hapmap];0.85[LWK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs904614	0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250108	NUAK1	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106699800-106718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:106700600-106736000	Weak transcription	Stomach Mucosa	stomach
3	chr12:106703000-106722800	Weak transcription	Fetal Brain Male	brain
4	chr12:106703800-106718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:106704200-106716800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:106704200-106729400	Weak transcription	NHLF	lung
7	chr12:106704200-106729800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:106704600-106717600	Weak transcription	HSMM	muscle
9	chr12:106704600-106724400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:106704800-106726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:106704800-106738800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:106705400-106731600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:106705800-106725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:106706000-106727800	Strong transcription	Placenta	Placenta
17	chr12:106707800-106716200	Weak transcription	HUVEC	blood vessel
18	chr12:106707800-106721000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:106707800-106721800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:106707800-106726400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:106707800-106738800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:106707800-106738800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:106708000-106716600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:106708000-106720600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:106708000-106720600	Strong transcription	Lung	lung
26	chr12:106708000-106720800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr12:106708000-106721400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:106708000-106721600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:106708000-106721600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:106708000-106723400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:106708000-106726800	Strong transcription	Fetal Intestine Large	intestine
32	chr12:106708000-106728200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:106708000-106740600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:106708000-106741000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:106708200-106721200	Strong transcription	Ovary	ovary
36	chr12:106708200-106721200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:106708200-106721400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:106708400-106717200	Strong transcription	Fetal Stomach	stomach
39	chr12:106708400-106720800	Strong transcription	Brain Anterior Caudate	brain
40	chr12:106708400-106721200	Strong transcription	Primary B cells from cord blood	blood
41	chr12:106708400-106723400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:106708400-106728000	Strong transcription	Thymus	Thymus
43	chr12:106708600-106720600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr12:106708600-106720800	Strong transcription	Brain Hippocampus Middle	brain
45	chr12:106708600-106727000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:106708800-106719200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:106708800-106720800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr12:106709000-106717000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:106709000-106720600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:106709000-106721400	Strong transcription	Rectal Mucosa Donor 29	rectum

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