Variant report

Variant	rs781790
Chromosome Location	chr1:44976806-44976807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44975740..44979460-chr1:44980605..44983213,3	K562	blood:
2	chr1:44891978..44894211-chr1:44975036..44977951,2	K562	blood:
3	chr1:44965149..44968034-chr1:44976325..44978093,2	K562	blood:
4	chr1:44975674..44978374-chr1:44983451..44986964,3	K562	blood:
5	chr1:44975674..44978843-chr1:44984055..44988124,5	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12562325	0.89[ASN][1000 genomes]
rs270721	0.94[ASN][1000 genomes]
rs272534	0.84[ASN][1000 genomes]
rs2994537	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs67874053	0.94[ASN][1000 genomes]
rs781770	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781772	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs781775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs811928	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	esv1005212	chr1:44972573-44985674	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs781790	RIMS3	cis	parietal	SCAN
rs781790	DMAP1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44973200-44977400	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:44973800-44983000	Enhancers	Brain Substantia Nigra	brain
3	chr1:44974400-44978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:44974600-44978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:44974800-44978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:44975200-44977800	Weak transcription	Thymus	Thymus
7	chr1:44975400-44981600	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:44975600-44983000	Enhancers	Brain Hippocampus Middle	brain
9	chr1:44975600-44983200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:44975800-44978000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:44975800-44978200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:44975800-44979400	Enhancers	Brain Angular Gyrus	brain
13	chr1:44976000-44977000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:44976000-44978600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:44976200-44978000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:44976200-44978800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:44976400-44978400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:44976400-44985000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:44976600-44977800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:44976600-44977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:44976800-44977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:44976800-44977400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:44976800-44977600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:44976800-44977800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:44976800-44977800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:44976800-44978000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:44976800-44978200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:44976800-44978200	Weak transcription	Brain Anterior Caudate	brain
29	chr1:44976800-44978600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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