Variant report

Variant	rs532
Chromosome Location	chr14:39651193-39651194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39649637..39651390-chr14:39735677..39737211,2	MCF-7	breast:
2	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:
3	chr14:39650808..39656380-chr14:39733766..39738257,10	MCF-7	breast:
4	chr14:39620588..39622555-chr14:39650912..39652463,2	K562	blood:
5	chr14:39632209..39634394-chr14:39648466..39651233,2	K562	blood:
6	chr14:39581087..39583889-chr14:39651029..39653848,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258941	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10130972	0.80[EUR][1000 genomes]
rs10133797	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs10141243	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10149120	0.81[EUR][1000 genomes]
rs10151683	0.83[EUR][1000 genomes]
rs1061583	0.81[CEU][hapmap]
rs12147991	0.82[EUR][1000 genomes]
rs12164875	0.86[CHB][hapmap]
rs12437405	0.81[EUR][1000 genomes]
rs12891258	0.80[EUR][1000 genomes]
rs12895751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379360	0.81[EUR][1000 genomes]
rs17108846	0.80[EUR][1000 genomes]
rs2737721	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2737729	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2753606	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs28379470	0.81[EUR][1000 genomes]
rs28485301	0.82[EUR][1000 genomes]
rs2869	0.81[EUR][1000 genomes]
rs28856917	0.83[EUR][1000 genomes]
rs3759545	0.81[CEU][hapmap]
rs4143954	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs4902418	0.81[EUR][1000 genomes]
rs4902431	0.81[EUR][1000 genomes]
rs4902435	0.81[EUR][1000 genomes]
rs4902448	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs58851254	0.83[EUR][1000 genomes]
rs67248626	0.82[EUR][1000 genomes]
rs7147194	0.82[EUR][1000 genomes]
rs9322994	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs532	TRAPPC6B	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39645600-39655400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:39645800-39651200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:39645800-39653000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr14:39645800-39653400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr14:39645800-39654600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:39645800-39655200	Strong transcription	Placenta	Placenta
7	chr14:39645800-39657200	Strong transcription	HSMM	muscle
8	chr14:39646000-39651400	Strong transcription	Fetal Kidney	kidney
9	chr14:39646000-39652800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:39646000-39654200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:39646000-39654800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:39646000-39654800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:39646000-39655200	Strong transcription	HSMMtube	muscle
14	chr14:39646200-39651600	Genic enhancers	HUVEC	blood vessel
15	chr14:39646200-39652600	Strong transcription	Brain Anterior Caudate	brain
16	chr14:39646200-39653000	Strong transcription	Fetal Lung	lung
17	chr14:39646200-39654400	Strong transcription	Primary B cells from cord blood	blood
18	chr14:39646200-39654400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:39646200-39654400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr14:39646200-39654600	Strong transcription	Osteobl	bone
21	chr14:39646200-39654800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:39646200-39654800	Strong transcription	Fetal Brain Female	brain
23	chr14:39646200-39655000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr14:39646400-39651200	Strong transcription	Colonic Mucosa	Colon
25	chr14:39646400-39651200	Strong transcription	Rectal Smooth Muscle	rectum
26	chr14:39646400-39652600	Strong transcription	Brain Hippocampus Middle	brain
27	chr14:39646400-39653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:39646400-39653000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr14:39646400-39653400	Strong transcription	NHDF-Ad	bronchial
30	chr14:39646400-39654200	Strong transcription	Brain Substantia Nigra	brain
31	chr14:39646400-39654400	Strong transcription	NHLF	lung
32	chr14:39646400-39654800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:39646400-39654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:39646400-39654800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:39646400-39655000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:39646400-39655000	Strong transcription	HMEC	breast
37	chr14:39646400-39655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:39646400-39655200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:39646400-39655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:39646400-39655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:39646400-39655400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:39646400-39655800	Strong transcription	Fetal Thymus	thymus
43	chr14:39646600-39651400	Strong transcription	Left Ventricle	heart
44	chr14:39646600-39653200	Strong transcription	K562	blood
45	chr14:39646600-39654000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:39646600-39654200	Strong transcription	NHEK	skin
47	chr14:39646600-39654400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:39646600-39654400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:39646600-39654400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:39646600-39654600	Strong transcription	Duodenum Mucosa	Duodenum

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