Variant report

Variant	rs724102
Chromosome Location	chr9:95383290-95383291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95383287-95383317	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95371374..95373769-chr9:95381769..95384696,2	K562	blood:
2	chr9:95371816..95375091-chr9:95382914..95385220,3	K562	blood:

Variant related genes	Relation type
IPPK	TF binding region
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10114912	0.83[EUR][1000 genomes]
rs10114932	0.82[EUR][1000 genomes]
rs10115976	0.96[LWK][hapmap];0.84[MKK][hapmap]
rs10118939	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10122383	0.91[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10124058	0.86[EUR][1000 genomes]
rs10125587	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs1022844	0.87[CEU][hapmap]
rs10429459	0.87[CEU][hapmap]
rs10491804	0.91[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10514815	0.83[CEU][hapmap]
rs10761158	0.83[CEU][hapmap]
rs10761163	0.83[EUR][1000 genomes]
rs10820980	0.91[CEU][hapmap]
rs10820994	0.86[EUR][1000 genomes]
rs10821008	0.87[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs10992347	0.83[CEU][hapmap]
rs10992349	0.91[CEU][hapmap]
rs10992366	0.83[EUR][1000 genomes]
rs10992393	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10992424	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992450	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10992457	0.86[EUR][1000 genomes]
rs11794346	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs12336415	0.91[CEU][hapmap]
rs12341817	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs12342019	0.91[CEU][hapmap]
rs12343820	0.87[CEU][hapmap]
rs13284106	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13286566	0.86[EUR][1000 genomes]
rs13301537	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs1535754	0.83[CEU][hapmap]
rs1535756	0.91[CEU][hapmap]
rs1980848	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs2094281	0.91[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2181585	0.81[CEU][hapmap]
rs2296666	0.83[CEU][hapmap]
rs2296669	0.91[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs2516568	0.87[CEU][hapmap]
rs2761681	0.87[CEU][hapmap]
rs3739606	0.83[CEU][hapmap]
rs4743873	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs4743875	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4743876	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744133	0.83[CEU][hapmap]
rs4744135	0.83[CEU][hapmap]
rs4744137	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4744138	0.87[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs4744141	0.91[CEU][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs4744143	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6479422	0.91[CEU][hapmap]
rs6479431	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7020104	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7022562	0.83[CEU][hapmap]
rs7029939	0.83[EUR][1000 genomes]
rs7031567	0.83[CEU][hapmap]
rs7033979	0.91[CEU][hapmap]
rs7037194	0.83[CEU][hapmap]
rs7043984	0.87[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs7046335	0.88[EUR][1000 genomes]
rs747628	0.82[EUR][1000 genomes]
rs755209	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7847534	0.82[EUR][1000 genomes]
rs7850528	0.91[CEU][hapmap]
rs7852698	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7860786	0.83[CEU][hapmap]
rs7864575	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs7865019	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs7865118	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7868013	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs7869521	0.95[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7872610	0.82[EUR][1000 genomes]
rs7873397	0.91[CEU][hapmap]
rs927865	0.83[CEU][hapmap]
rs9299405	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs968040	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs987553	0.82[EUR][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs724102	CENPP	cis	parietal	SCAN
rs724102	ZNF484	cis	cerebellum	SCAN
rs724102	CENPP	cis	Muscle Skeletal	GTEx
rs724102	ZNF484	cis	parietal	SCAN
rs724102	CENPP	cis	Esophagus Muscularis	GTEx
rs724102	CENPP	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95363400-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:95370600-95394000	Weak transcription	Psoas Muscle	Psoas
3	chr9:95371400-95398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:95371800-95399000	Weak transcription	Aorta	Aorta
5	chr9:95371800-95407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:95372000-95394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:95372400-95383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:95372800-95384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:95373000-95383400	Strong transcription	Brain Germinal Matrix	brain
10	chr9:95373000-95384200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:95373000-95384200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr9:95373000-95384200	Strong transcription	Primary T cells from cord blood	blood
13	chr9:95373000-95384200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:95373000-95384400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:95373000-95384800	Strong transcription	Dnd41	blood
16	chr9:95373000-95421200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:95373200-95383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:95373200-95384000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:95373200-95388000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr9:95373200-95399200	Weak transcription	Small Intestine	intestine
21	chr9:95373600-95383400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:95373600-95383400	Strong transcription	Thymus	Thymus
23	chr9:95373800-95383400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr9:95373800-95384000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:95373800-95384400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr9:95374000-95383400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr9:95374000-95384400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:95374000-95394000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr9:95374200-95384000	Strong transcription	GM12878-XiMat	blood
30	chr9:95374800-95384200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:95375200-95405000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:95375400-95403000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:95376400-95383400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:95376400-95384200	Enhancers	Ovary	ovary
35	chr9:95377600-95388000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:95377800-95384800	Strong transcription	Osteobl	bone
37	chr9:95378000-95386000	Weak transcription	A549	lung
38	chr9:95378200-95393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:95378200-95394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:95378200-95394000	Weak transcription	Brain Substantia Nigra	brain
41	chr9:95378200-95394200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:95378200-95403600	Weak transcription	Fetal Brain Male	brain
43	chr9:95378400-95394000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr9:95378800-95393800	Weak transcription	Fetal Kidney	kidney
45	chr9:95378800-95394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:95379600-95383600	Strong transcription	Fetal Intestine Large	intestine
47	chr9:95379600-95394400	Weak transcription	NHDF-Ad	bronchial
48	chr9:95379800-95383400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:95379800-95383400	Strong transcription	HSMMtube	muscle
50	chr9:95379800-95384000	Strong transcription	Fetal Intestine Small	intestine

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