Variant report

Variant	rs2332167
Chromosome Location	chr14:70254327-70254328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70252150..70254592-chr14:70256413..70257995,2	K562	blood:
2	chr14:70253162..70255324-chr14:70257744..70259323,3	MCF-7	breast:
3	chr14:70253256..70256439-chr14:70262024..70266154,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10130926	0.80[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10136529	0.93[EUR][1000 genomes]
rs10142027	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142031	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142686	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10143223	0.84[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs10146537	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10151895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459536	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620808	0.85[JPT][hapmap]
rs11621916	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs11622580	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs11622925	0.90[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs11624523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624532	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes]
rs11625731	0.90[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs11625932	0.90[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs11628423	0.81[JPT][hapmap]
rs11628546	0.85[JPT][hapmap]
rs11628665	1.00[JPT][hapmap]
rs11629054	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap]
rs12431573	0.96[CEU][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13313388	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs14411	0.85[JPT][hapmap]
rs17328	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1953399	0.95[ASN][1000 genomes]
rs1953400	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2148503	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2148505	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28404963	0.94[ASN][1000 genomes]
rs28437822	0.96[ASN][1000 genomes]
rs28490548	0.94[EUR][1000 genomes]
rs2877595	0.94[ASN][1000 genomes]
rs2877598	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28847646	0.90[ASN][1000 genomes]
rs3104	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784152	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809399	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[ASN][1000 genomes]
rs4646285	0.90[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs4646286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899311	0.92[ASN][1000 genomes]
rs4899313	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4902752	0.90[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4902753	0.94[ASN][1000 genomes]
rs4902755	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902756	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902757	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55724465	0.96[ASN][1000 genomes]
rs55987626	0.89[ASN][1000 genomes]
rs56074637	0.89[ASN][1000 genomes]
rs56140822	0.83[ASN][1000 genomes]
rs57492222	0.95[ASN][1000 genomes]
rs58582364	0.96[ASN][1000 genomes]
rs59172911	0.94[ASN][1000 genomes]
rs60442313	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61356864	0.86[ASN][1000 genomes]
rs6573905	0.94[ASN][1000 genomes]
rs6573906	0.94[ASN][1000 genomes]
rs6573907	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573909	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7142868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152290	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7153496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153985	0.94[ASN][1000 genomes]
rs7154439	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7160953	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7161476	0.90[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs72725718	0.94[ASN][1000 genomes]
rs72725724	0.87[ASN][1000 genomes]
rs72725740	0.96[ASN][1000 genomes]
rs72725743	0.96[ASN][1000 genomes]
rs72725745	0.96[ASN][1000 genomes]
rs8005609	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8010836	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs8011311	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013598	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014236	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8021735	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9944036	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2332167	MPP5	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
2	chr14:70238400-70254600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:70241000-70256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:70245400-70255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:70245400-70256000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:70245600-70254600	Weak transcription	Fetal Kidney	kidney
7	chr14:70245600-70255000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:70245600-70257400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:70245800-70256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70246000-70254800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:70246200-70254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:70246200-70255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:70246200-70258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:70246200-70259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:70246400-70261800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:70246400-70264000	Weak transcription	Fetal Intestine Small	intestine
17	chr14:70246600-70256800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:70246600-70256800	Weak transcription	HSMMtube	muscle
19	chr14:70247000-70264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:70247400-70254800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:70247800-70254600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:70248200-70255600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:70248200-70255600	Weak transcription	HMEC	breast
24	chr14:70248200-70256200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:70248200-70263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
27	chr14:70248400-70254400	Weak transcription	Fetal Lung	lung
28	chr14:70248400-70254800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:70248400-70254800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:70248400-70255000	Weak transcription	Ovary	ovary
31	chr14:70248400-70256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:70248400-70256200	Weak transcription	Right Atrium	heart
33	chr14:70248400-70264400	Weak transcription	Esophagus	oesophagus
34	chr14:70248600-70255400	Weak transcription	Fetal Brain Female	brain
35	chr14:70248600-70256200	Weak transcription	Fetal Intestine Large	intestine
36	chr14:70248600-70263600	Weak transcription	Right Ventricle	heart
37	chr14:70248800-70254800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:70248800-70255000	Weak transcription	Brain Substantia Nigra	brain
39	chr14:70248800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:70248800-70256400	Weak transcription	Brain Germinal Matrix	brain
41	chr14:70248800-70264000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:70249000-70254800	Weak transcription	Brain Angular Gyrus	brain
43	chr14:70249000-70254800	Weak transcription	A549	lung
44	chr14:70249000-70264000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:70251600-70255000	Genic enhancers	Liver	Liver
46	chr14:70251800-70264200	Weak transcription	Colonic Mucosa	Colon
47	chr14:70253200-70254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:70253200-70255600	Weak transcription	NHEK	skin
49	chr14:70253400-70254600	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:70253400-70255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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