Variant report

Variant	rs12323409
Chromosome Location	chr14:31787557-31787558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31784409..31786854-chr14:31787339..31791059,3	MCF-7	breast:
2	chr14:31677046..31680336-chr14:31784092..31788238,4	K562	blood:
3	chr14:31675817..31678526-chr14:31784194..31789174,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10134212	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];1.00[MKK][hapmap];0.94[ASN][1000 genomes]
rs10143519	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147468	1.00[MKK][hapmap]
rs10148707	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10149123	0.94[ASN][1000 genomes]
rs12590908	1.00[CEU][hapmap]
rs17097806	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2031437	0.93[EUR][1000 genomes]
rs28396248	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28505754	0.96[ASN][1000 genomes]
rs28738723	0.96[ASN][1000 genomes]
rs28791187	0.96[ASN][1000 genomes]
rs28799339	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72642557	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72642558	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642559	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8005648	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9972227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12323409	TRAP1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
6	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
8	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:31768000-31805800	Weak transcription	NHEK	skin
11	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
12	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
13	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
16	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:31771600-31798600	Weak transcription	A549	lung
21	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:31772800-31787800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
24	chr14:31773600-31789000	Weak transcription	HSMMtube	muscle
25	chr14:31773600-31789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31774000-31788200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:31774400-31792200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
30	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
31	chr14:31777000-31788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:31777000-31795000	Weak transcription	GM12878-XiMat	blood
33	chr14:31777200-31795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
35	chr14:31777800-31788200	Strong transcription	Liver	Liver
36	chr14:31779200-31794400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:31779400-31790800	Strong transcription	Fetal Stomach	stomach
38	chr14:31780000-31790000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:31780000-31790600	Strong transcription	Osteobl	bone
40	chr14:31780400-31794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:31780600-31795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:31782200-31787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
45	chr14:31782200-31875200	Weak transcription	Gastric	stomach
46	chr14:31782400-31787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:31782400-31787800	Weak transcription	Lung	lung
48	chr14:31782400-31789000	Weak transcription	Ovary	ovary
49	chr14:31782400-31789400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:31782400-31794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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