Variant report

Variant	rs8023343
Chromosome Location	chr15:57219774-57219775
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57219695..57221734-chr15:57225928..57228525,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10467927	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs10851612	0.90[GIH][hapmap]
rs1115019	0.85[CHB][hapmap];0.85[GIH][hapmap]
rs11856411	0.86[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12440219	0.86[YRI][hapmap]
rs12902058	0.93[YRI][hapmap]
rs12906025	0.93[YRI][hapmap]
rs13313455	0.82[YRI][hapmap]
rs1430820	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1430822	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1441236	0.85[CHB][hapmap]
rs1657922	0.85[CHB][hapmap];0.90[GIH][hapmap]
rs1660958	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16977153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16977243	0.85[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap]
rs17415731	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1820994	0.84[AMR][1000 genomes]
rs2111890	0.93[YRI][hapmap]
rs2169467	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs28639536	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28756149	0.82[ASN][1000 genomes]
rs28814080	0.87[ASN][1000 genomes]
rs4774245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4774246	0.92[YRI][hapmap]
rs6493900	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7162194	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7163267	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7164655	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7171073	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7171304	0.90[CEU][hapmap]
rs7176873	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7178833	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8031640	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs8032615	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs8034066	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs8035485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8039899	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs9302200	0.94[ASW][hapmap];0.85[CEU][hapmap];0.85[JPT][hapmap]
rs9806170	0.85[CEU][hapmap];0.95[CHB][hapmap];0.80[GIH][hapmap]
rs9806199	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8023343	LOC283663	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:57212400-57224800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:57212400-57224800	Weak transcription	Spleen	Spleen
4	chr15:57212400-57230400	Weak transcription	Lung	lung
5	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
7	chr15:57212600-57224000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:57212600-57241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:57212800-57220200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr15:57212800-57220600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:57212800-57222200	Weak transcription	Left Ventricle	heart
12	chr15:57212800-57222200	Weak transcription	Psoas Muscle	Psoas
13	chr15:57212800-57222200	Weak transcription	Right Ventricle	heart
14	chr15:57212800-57222400	Weak transcription	Ovary	ovary
15	chr15:57212800-57224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:57212800-57227200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:57213000-57220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:57213000-57222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:57213000-57222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:57213000-57227400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:57213200-57221000	Weak transcription	Adipose Nuclei	Adipose
22	chr15:57213200-57221200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:57213200-57223400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:57213400-57220200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:57213400-57220200	Weak transcription	NHEK	skin
27	chr15:57213400-57223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:57213400-57226800	Weak transcription	Brain Germinal Matrix	brain
29	chr15:57214200-57220800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:57214400-57223200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr15:57214600-57221000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:57214800-57222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:57215000-57220200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr15:57215600-57221200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:57215600-57222600	Strong transcription	Primary B cells from cord blood	blood
36	chr15:57215600-57227400	Weak transcription	Fetal Brain Female	brain
37	chr15:57216000-57219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:57216000-57220000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:57216000-57220600	Strong transcription	K562	blood
40	chr15:57216000-57221200	Enhancers	Brain Hippocampus Middle	brain
41	chr15:57216000-57222000	Genic enhancers	Dnd41	blood
42	chr15:57216200-57221400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr15:57216400-57241800	Weak transcription	Fetal Brain Male	brain
44	chr15:57216600-57221000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:57216600-57221000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:57216600-57221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:57216600-57221600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:57217200-57221600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:57217200-57224000	Weak transcription	Stomach Mucosa	stomach
50	chr15:57217400-57220000	Weak transcription	HSMM	muscle

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