Variant report

Variant	rs3819812
Chromosome Location	chr6:144280799-144280800
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	chr6:144278626..144280839-chr6:144407684..144410223,2	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];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268447	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2328536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2876578	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]
rs3819810	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3819811	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9321951	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9321952	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][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
rs3819812	STXBP5	cis	parietal	SCAN

Chromatin state (count:80 , 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	chr6:144268000-144281000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:144268800-144282200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:144269000-144284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
9	chr6:144269400-144287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
11	chr6:144269600-144281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:144269600-144284800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:144269800-144280800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:144269800-144283000	Weak transcription	Left Ventricle	heart
16	chr6:144269800-144285200	Weak transcription	Spleen	Spleen
17	chr6:144269800-144286000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:144269800-144286400	Weak transcription	Right Ventricle	heart
19	chr6:144269800-144286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:144269800-144289800	Weak transcription	Ovary	ovary
21	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:144270000-144280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:144270400-144284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:144270400-144284600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:144271600-144284400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:144272800-144284200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:144273000-144283800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:144274000-144282400	Weak transcription	Fetal Brain Female	brain
31	chr6:144274400-144289800	Weak transcription	Esophagus	oesophagus
32	chr6:144275000-144281000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:144275400-144281200	Weak transcription	Adipose Nuclei	Adipose
35	chr6:144275400-144284200	Weak transcription	Right Atrium	heart
36	chr6:144276600-144287000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:144277200-144283200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr6:144277600-144281000	Weak transcription	NH-A	brain
40	chr6:144277600-144287000	Weak transcription	HMEC	breast
41	chr6:144277800-144280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:144278000-144281000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:144278000-144281800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:144278000-144283000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:144278800-144283400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:144278800-144286600	Weak transcription	NHDF-Ad	bronchial
47	chr6:144279000-144281600	Weak transcription	K562	blood
48	chr6:144279400-144281200	Genic enhancers	Fetal Lung	lung
49	chr6:144279600-144281600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:144279800-144281400	Strong transcription	Monocytes-CD14+_RO01746	blood

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