Variant report

Variant	rs2876578
Chromosome Location	chr6:144276325-144276326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144274204..144276778-chr6:144326473..144328934,2	K562	blood:
2	chr6:144271708..144274687-chr6:144275068..144276895,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2247408	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328536	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3819810	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819811	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs3819812	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9321951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399469	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2876578	STXBP5	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144256600-144284400	Weak transcription	Aorta	Aorta
2	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:144261600-144285800	Weak transcription	Small Intestine	intestine
4	chr6:144261600-144287000	Weak transcription	GM12878-XiMat	blood
5	chr6:144263400-144280200	Weak transcription	Gastric	stomach
6	chr6:144266000-144277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:144267400-144279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:144268000-144277200	Weak transcription	HMEC	breast
9	chr6:144268000-144281000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:144268800-144282200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:144269000-144284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
13	chr6:144269400-144287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
15	chr6:144269600-144279400	Weak transcription	Osteobl	bone
16	chr6:144269600-144280200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:144269600-144280200	Weak transcription	Lung	lung
18	chr6:144269600-144281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:144269600-144284800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:144269800-144277400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:144269800-144280200	Weak transcription	Psoas Muscle	Psoas
23	chr6:144269800-144280600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:144269800-144280800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:144269800-144283000	Weak transcription	Left Ventricle	heart
26	chr6:144269800-144285200	Weak transcription	Spleen	Spleen
27	chr6:144269800-144286000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:144269800-144286400	Weak transcription	Right Ventricle	heart
29	chr6:144269800-144286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:144269800-144289800	Weak transcription	Ovary	ovary
31	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:144270000-144276600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:144270000-144279400	Weak transcription	Fetal Kidney	kidney
35	chr6:144270000-144280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:144270400-144284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:144270400-144284600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
39	chr6:144271600-144277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:144271600-144280600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:144271600-144284400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:144271800-144280200	Weak transcription	Placenta	Placenta
43	chr6:144272000-144278800	Weak transcription	K562	blood
44	chr6:144272400-144279800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:144272800-144284200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:144273000-144283800	Weak transcription	Fetal Intestine Small	intestine
47	chr6:144273200-144277000	Weak transcription	Fetal Intestine Large	intestine
48	chr6:144273800-144278000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:144273800-144279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:144274000-144282400	Weak transcription	Fetal Brain Female	brain

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