Variant report

Variant	rs7583719
Chromosome Location	chr2:48337970-48337971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48337633..48340704-chr2:48540027..48544191,8	MCF-7	breast:
2	chr2:48334851..48336463-chr2:48336834..48339382,2	K562	blood:
3	chr2:48337910..48340125-chr2:48569442..48571000,2	MCF-7	breast:
4	chr2:48336673..48339163-chr2:48642028..48644836,2	K562	blood:
5	chr2:48333955..48336351-chr2:48337662..48339382,2	K562	blood:
6	chr2:48337578..48340434-chr2:48697185..48699414,2	MCF-7	breast:
7	chr2:48337775..48340265-chr2:48597214..48600170,2	MCF-7	breast:
8	chr2:48009304..48010827-chr2:48336358..48338328,2	K562	blood:
9	chr2:48336922..48340984-chr2:48645140..48651052,10	MCF-7	breast:
10	chr2:48336515..48341862-chr2:48539044..48543633,11	MCF-7	breast:
11	chr2:48337671..48340205-chr2:48664640..48667465,2	MCF-7	breast:
12	chr2:48337730..48339827-chr2:48662908..48664410,2	MCF-7	breast:
13	chr2:48337576..48339769-chr2:48655484..48657436,2	MCF-7	breast:
14	chr2:48131582..48133722-chr2:48336786..48340166,3	MCF-7	breast:
15	chr2:48337553..48343006-chr2:48644200..48649231,9	MCF-7	breast:
16	chr2:48337844..48339737-chr2:48667787..48670405,2	K562	blood:
17	chr2:48337541..48339290-chr2:48647557..48648526,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000138081	Chromatin interaction
ENSG00000162869	Chromatin interaction
ENSG00000170802	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10495950	0.94[EUR][1000 genomes]
rs11674475	0.98[EUR][1000 genomes]
rs11676381	0.98[EUR][1000 genomes]
rs11676925	0.80[EUR][1000 genomes]
rs11677205	0.80[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs11677590	0.86[EUR][1000 genomes]
rs11679956	0.98[EUR][1000 genomes]
rs11680162	0.93[EUR][1000 genomes]
rs11680404	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11680657	0.89[EUR][1000 genomes]
rs11681876	0.94[EUR][1000 genomes]
rs11683689	0.94[EUR][1000 genomes]
rs11687670	0.94[EUR][1000 genomes]
rs11687989	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11689736	0.98[EUR][1000 genomes]
rs11689818	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691493	0.98[EUR][1000 genomes]
rs11692660	0.81[CEU][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs11693267	0.98[EUR][1000 genomes]
rs11695799	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11695923	0.89[EUR][1000 genomes]
rs11889493	0.98[EUR][1000 genomes]
rs13431982	0.94[EUR][1000 genomes]
rs1586126	0.84[EUR][1000 genomes]
rs17037087	0.83[EUR][1000 genomes]
rs17324473	0.85[EUR][1000 genomes]
rs17324965	0.99[EUR][1000 genomes]
rs17325048	0.94[EUR][1000 genomes]
rs17325209	0.90[EUR][1000 genomes]
rs17396793	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17397094	0.89[EUR][1000 genomes]
rs2014675	0.89[EUR][1000 genomes]
rs2840147	0.93[EUR][1000 genomes]
rs34135365	0.98[EUR][1000 genomes]
rs4530419	1.00[CEU][hapmap];0.83[YRI][hapmap];0.98[EUR][1000 genomes]
rs55802119	0.94[EUR][1000 genomes]
rs56037709	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58032869	0.93[EUR][1000 genomes]
rs58136909	0.92[EUR][1000 genomes]
rs6730166	0.99[EUR][1000 genomes]
rs6733558	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.99[EUR][1000 genomes]
rs6745620	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6747738	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs6759056	1.00[EUR][1000 genomes]
rs73927905	0.87[AMR][1000 genomes]
rs73927910	0.82[EUR][1000 genomes]
rs73927911	0.83[EUR][1000 genomes]
rs73927919	0.85[EUR][1000 genomes]
rs7561696	0.90[EUR][1000 genomes]
rs7571905	0.92[EUR][1000 genomes]
rs7581510	0.94[EUR][1000 genomes]
rs952468	0.89[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7583719	PREPL	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48333200-48338200	Enhancers	HMEC	breast
2	chr2:48333600-48338200	Weak transcription	Gastric	stomach
3	chr2:48333800-48338200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:48333800-48338200	Weak transcription	Stomach Mucosa	stomach
5	chr2:48333800-48338400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:48333800-48338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:48333800-48338400	Weak transcription	Ovary	ovary
8	chr2:48334000-48338200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:48334000-48338200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:48334000-48338200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:48334200-48338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:48334200-48338200	Weak transcription	Primary B cells from cord blood	blood
13	chr2:48334200-48338200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:48334200-48338200	Weak transcription	Primary T cells from cord blood	blood
15	chr2:48334200-48338200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:48334200-48338200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:48334200-48338200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:48334200-48338200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:48334400-48338000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:48334400-48338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:48334400-48338000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:48334400-48338000	Weak transcription	Fetal Brain Female	brain
23	chr2:48334400-48338000	Weak transcription	Fetal Kidney	kidney
24	chr2:48334400-48338000	Weak transcription	Dnd41	blood
25	chr2:48334400-48338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:48334400-48338200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:48334400-48338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:48334400-48338200	Weak transcription	Colonic Mucosa	Colon
29	chr2:48334400-48338200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:48334400-48338200	Weak transcription	Fetal Stomach	stomach
31	chr2:48334400-48338200	Weak transcription	Fetal Thymus	thymus
32	chr2:48334400-48338200	Weak transcription	Pancreas	Pancrea
33	chr2:48334400-48338200	Weak transcription	Psoas Muscle	Psoas
34	chr2:48334400-48338200	Weak transcription	GM12878-XiMat	blood
35	chr2:48334400-48338400	Weak transcription	Fetal Brain Male	brain
36	chr2:48334600-48338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:48334600-48338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:48334600-48338200	Weak transcription	Liver	Liver
39	chr2:48334600-48338200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:48334600-48338200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:48334600-48338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:48334800-48338000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:48334800-48338000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:48334800-48338200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:48334800-48338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:48334800-48338200	Weak transcription	Aorta	Aorta
47	chr2:48335000-48338000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:48335000-48338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:48335000-48338200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:48335000-48338200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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