Variant report

Variant	rs4709487
Chromosome Location	chr6:161487794-161487795
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161487721..161489448-chr6:161500359..161503113,2	K562	blood:
2	chr6:161486463..161488606-chr6:161561664..161563323,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2314378	0.87[AFR][1000 genomes]
rs3734461	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs606817	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs625977	0.89[CEU][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs630006	0.93[YRI][hapmap]
rs644486	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6455702	0.83[AFR][1000 genomes]
rs675457	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6905734	0.89[YRI][hapmap]
rs705826	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs705828	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7746515	0.81[AFR][1000 genomes]
rs9295134	0.83[ASW][hapmap];0.91[LWK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs9295138	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9355327	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs9365246	0.91[AFR][1000 genomes]
rs9456620	0.90[AFR][1000 genomes]
rs9458102	0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4709487	LPAL2,PLG	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:161449000-161494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:161452800-161489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
5	chr6:161455200-161495800	Weak transcription	Fetal Brain Male	brain
6	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:161459400-161488800	Weak transcription	Brain Angular Gyrus	brain
8	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
9	chr6:161459800-161496600	Weak transcription	Fetal Kidney	kidney
10	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
11	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:161460400-161488800	Weak transcription	Fetal Heart	heart
13	chr6:161460600-161495600	Weak transcription	HSMMtube	muscle
14	chr6:161462800-161497200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:161462800-161497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:161463000-161489000	Weak transcription	Fetal Brain Female	brain
18	chr6:161463000-161491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:161463200-161488000	Weak transcription	Ovary	ovary
20	chr6:161463400-161491600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:161463600-161495600	Weak transcription	Pancreas	Pancrea
22	chr6:161463800-161499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:161470400-161495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:161470600-161488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:161470600-161492000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:161470600-161493800	Weak transcription	Fetal Thymus	thymus
27	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:161470800-161491600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:161470800-161491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:161471000-161490400	Weak transcription	Lung	lung
31	chr6:161471000-161491600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:161471000-161503800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:161471200-161489000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:161471200-161491600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:161471200-161492200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:161471200-161494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:161471400-161491800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:161471400-161500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:161471600-161491600	Weak transcription	Fetal Lung	lung
40	chr6:161471600-161494400	Weak transcription	Osteobl	bone
41	chr6:161471800-161491600	Weak transcription	Liver	Liver
42	chr6:161472000-161491600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:161472000-161491600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:161472000-161492200	Weak transcription	Fetal Intestine Large	intestine
45	chr6:161472200-161491600	Weak transcription	HSMM	muscle
46	chr6:161472600-161492600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:161472800-161491600	Weak transcription	Placenta	Placenta
48	chr6:161473000-161491600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:161473000-161495000	Weak transcription	Adipose Nuclei	Adipose
50	chr6:161473000-161495600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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