Variant report

Variant	rs12036856
Chromosome Location	chr1:44952582-44952583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44950120..44953061-chr1:44985503..44987961,3	K562	blood:
2	chr1:44952504..44954756-chr1:44972241..44973836,2	K562	blood:
3	chr1:44951825..44954693-chr1:44955122..44957757,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10082259	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10493119	0.94[MEX][hapmap]
rs12041594	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6661026	0.82[ASN][1000 genomes]
rs7516631	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs781783	0.95[MEX][hapmap]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12036856	ZSWIM5	cis	parietal	SCAN
rs12036856	SNORD38B	cis	parietal	SCAN
rs12036856	TESK2	cis	parietal	SCAN
rs12036856	EBNA1BP2	cis	parietal	SCAN
rs12036856	ELOVL1	cis	parietal	SCAN
rs12036856	C1orf50	cis	parietal	SCAN
rs12036856	SH3BP5L	trans	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44948600-44952800	Enhancers	Brain Angular Gyrus	brain
2	chr1:44948800-44952600	Enhancers	HSMMtube	muscle
3	chr1:44949000-44953000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:44949200-44952600	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:44949200-44952600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:44949200-44952600	Enhancers	Brain Substantia Nigra	brain
7	chr1:44949600-44952600	Enhancers	HSMM	muscle
8	chr1:44949800-44952600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:44949800-44952600	Enhancers	K562	blood
10	chr1:44949800-44952600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:44950000-44952800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:44951600-44952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:44951600-44952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:44951600-44952600	Enhancers	HUVEC	blood vessel
15	chr1:44952000-44952600	Enhancers	Primary B cells from cord blood	blood
16	chr1:44952000-44952600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:44952000-44952800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:44952000-44955200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:44952000-44955200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:44952000-44955200	Weak transcription	NH-A	brain
21	chr1:44952000-44966200	Weak transcription	Right Atrium	heart
22	chr1:44952200-44952600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:44952200-44952800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:44952200-44954600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:44952400-44952600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:44952400-44952600	Enhancers	Aorta	Aorta
27	chr1:44952400-44952600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:44952400-44952600	Enhancers	Hela-S3	cervix
29	chr1:44952400-44954800	Weak transcription	Osteobl	bone
30	chr1:44952400-44955000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:44952400-44960000	Weak transcription	Brain Hippocampus Middle	brain

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