Variant report

Variant	rs781783
Chromosome Location	chr1:44951085-44951086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44942111..44945407-chr1:44946739..44951751,4	K562	blood:
2	chr1:44911243..44913020-chr1:44948878..44951824,2	K562	blood:
3	chr1:44950120..44953061-chr1:44985503..44987961,3	K562	blood:
4	chr1:44941606..44943611-chr1:44949002..44951401,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10082259	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10493119	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890305	0.86[CEU][hapmap]
rs11211006	0.81[GIH][hapmap]
rs12036856	0.95[MEX][hapmap]
rs12041594	0.85[ASN][1000 genomes]
rs6661026	0.81[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs781783	SNORD38B	cis	parietal	SCAN
rs781783	NASP	cis	parietal	SCAN
rs781783	ELOVL1	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44946400-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:44946800-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:44947400-44951600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:44948000-44951200	Enhancers	Brain Hippocampus Middle	brain
5	chr1:44948600-44952800	Enhancers	Brain Angular Gyrus	brain
6	chr1:44948800-44952000	Enhancers	Brain Anterior Caudate	brain
7	chr1:44948800-44952600	Enhancers	HSMMtube	muscle
8	chr1:44949000-44953000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:44949200-44952000	Enhancers	Fetal Heart	heart
10	chr1:44949200-44952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:44949200-44952600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:44949200-44952600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:44949200-44952600	Enhancers	Brain Substantia Nigra	brain
14	chr1:44949400-44952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:44949400-44952200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:44949400-44952200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:44949600-44951200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:44949600-44951200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:44949600-44951600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:44949600-44951800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:44949600-44952000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:44949600-44952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:44949600-44952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:44949600-44952000	Enhancers	NH-A	brain
25	chr1:44949600-44952400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:44949600-44952600	Enhancers	HSMM	muscle
27	chr1:44949800-44952000	Enhancers	Adipose Nuclei	Adipose
28	chr1:44949800-44952000	Enhancers	Fetal Muscle Leg	muscle
29	chr1:44949800-44952400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:44949800-44952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:44949800-44952600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:44949800-44952600	Enhancers	K562	blood
33	chr1:44949800-44952600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:44950000-44951800	Enhancers	Primary B cells from cord blood	blood
35	chr1:44950000-44952000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:44950000-44952000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:44950000-44952200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:44950000-44952400	Enhancers	NHDF-Ad	bronchial
39	chr1:44950000-44952800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:44950200-44951400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:44950200-44951600	Enhancers	Aorta	Aorta
42	chr1:44950400-44951200	Enhancers	Osteobl	bone
43	chr1:44950400-44951400	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:44950400-44951400	Weak transcription	Left Ventricle	heart
45	chr1:44950400-44951400	Weak transcription	Right Atrium	heart
46	chr1:44950400-44951600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:44950400-44952400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:44950600-44951400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:44950600-44951400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:44950600-44952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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