Variant report

Variant	rs1359193
Chromosome Location	chr13:39942972-39942973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1359192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1887474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336133	0.88[ASW][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs8253	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1359193	SOHLH2	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39937200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:39938800-39944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:39938800-39944600	Weak transcription	Brain Anterior Caudate	brain
4	chr13:39939400-39943600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:39939400-39944600	Weak transcription	Fetal Brain Female	brain
6	chr13:39939600-39943400	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:39939600-39944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:39939600-39944200	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:39939600-39944200	Weak transcription	Brain Substantia Nigra	brain
10	chr13:39939600-39944200	Weak transcription	Left Ventricle	heart
11	chr13:39939600-39944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:39939600-39959600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:39939800-39944200	Weak transcription	NHEK	skin
14	chr13:39939800-39944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:39939800-39944800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:39939800-39945000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr13:39939800-39959800	Weak transcription	Fetal Lung	lung
18	chr13:39940000-39944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:39940000-39944200	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:39940000-39944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:39940000-39944400	Weak transcription	Right Ventricle	heart
22	chr13:39940000-39944400	Weak transcription	HMEC	breast
23	chr13:39940000-39944600	Weak transcription	NHLF	lung
24	chr13:39940000-39944800	Weak transcription	Aorta	Aorta
25	chr13:39940200-39943000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:39940200-39943800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:39940200-39943800	Weak transcription	Fetal Heart	heart
28	chr13:39940200-39944600	Weak transcription	HSMMtube	muscle
29	chr13:39940200-39947400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:39940200-39953800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:39940600-39944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:39940600-39953800	Weak transcription	Osteobl	bone
33	chr13:39941000-39944200	Weak transcription	NHDF-Ad	bronchial
34	chr13:39941000-39944600	Weak transcription	Ovary	ovary
35	chr13:39941000-39946400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:39941400-39947000	Weak transcription	Right Atrium	heart
37	chr13:39942600-39946000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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