Variant report

Variant	rs2383283
Chromosome Location	chr14:32598389-32598390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32597351..32599387-chr14:32602127..32605349,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10133184	1.00[MEX][hapmap]
rs10143686	1.00[AMR][1000 genomes]
rs11847643	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17091615	1.00[AMR][1000 genomes]
rs1952484	1.00[AMR][1000 genomes]
rs1958369	1.00[AMR][1000 genomes]
rs7141680	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][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	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2383283	PILRA	trans	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32571800-32606800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:32571800-32614400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:32574400-32599400	Weak transcription	Aorta	Aorta
4	chr14:32574400-32615600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:32576000-32599000	Weak transcription	Psoas Muscle	Psoas
6	chr14:32577200-32605400	Weak transcription	Primary T cells from cord blood	blood
7	chr14:32577400-32625000	Weak transcription	Small Intestine	intestine
8	chr14:32577800-32603200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:32577800-32603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:32578000-32600000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:32587600-32603600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:32590000-32623000	Weak transcription	HSMMtube	muscle
13	chr14:32591600-32603200	Weak transcription	Hela-S3	cervix
14	chr14:32591600-32621200	Weak transcription	NHLF	lung
15	chr14:32592200-32601600	Weak transcription	HUVEC	blood vessel
16	chr14:32592200-32606400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:32592800-32614400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:32593000-32601800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:32593600-32606400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:32593800-32607200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:32594000-32599400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:32595800-32598400	Weak transcription	Brain Anterior Caudate	brain
23	chr14:32595800-32598600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:32595800-32605600	Weak transcription	Primary B cells from cord blood	blood
25	chr14:32595800-32605600	Weak transcription	Fetal Lung	lung
26	chr14:32595800-32605800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:32596000-32603400	Weak transcription	Fetal Kidney	kidney
28	chr14:32596000-32605600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:32596000-32606600	Weak transcription	Brain Angular Gyrus	brain
30	chr14:32596000-32622800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:32596200-32605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:32596200-32605800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:32596400-32620400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:32596600-32616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:32596800-32598400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr14:32596800-32598400	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr14:32597000-32598400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:32597000-32600200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:32597000-32600400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr14:32597200-32599200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr14:32597200-32600400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr14:32597400-32598400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr14:32597400-32600800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:32597400-32601800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:32597600-32598600	Enhancers	Stomach Smooth Muscle	stomach
46	chr14:32597600-32598800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr14:32597600-32599000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:32597600-32599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:32597600-32599200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:32597600-32599200	Enhancers	Colon Smooth Muscle	Colon

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