Variant report

Variant	rs1015847
Chromosome Location	chr18:25743967-25743968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10513896	0.85[CHB][hapmap]
rs11083253	0.85[CHB][hapmap]
rs11564339	0.85[CHB][hapmap]
rs1231268	0.94[LWK][hapmap]
rs12605662	0.85[CHB][hapmap]
rs17446980	0.85[CHB][hapmap]
rs1785835	0.94[LWK][hapmap]
rs1789470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1941384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2535597	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28365327	0.85[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1015847	CABYR	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
4	chr18:25734600-25748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25734800-25749200	Weak transcription	Fetal Kidney	kidney
6	chr18:25736800-25747400	Enhancers	Liver	Liver
7	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:25739200-25747200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:25739400-25751800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:25741000-25746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:25741200-25744800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:25741200-25753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:25741800-25744000	Enhancers	NH-A	brain
14	chr18:25742200-25744400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:25742400-25747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:25742400-25751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:25742600-25751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
19	chr18:25742800-25746200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:25742800-25746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:25742800-25747200	Enhancers	Fetal Heart	heart
22	chr18:25742800-25749800	Weak transcription	Right Ventricle	heart
23	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:25743000-25751600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr18:25743200-25745200	Enhancers	Brain Germinal Matrix	brain
26	chr18:25743200-25745200	Enhancers	Fetal Brain Female	brain
27	chr18:25743400-25744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:25743400-25744800	Enhancers	Fetal Brain Male	brain
29	chr18:25743400-25745200	Weak transcription	Ovary	ovary
30	chr18:25743400-25747200	Weak transcription	Fetal Intestine Large	intestine
31	chr18:25743400-25747200	Weak transcription	Fetal Intestine Small	intestine
32	chr18:25743400-25747600	Weak transcription	Brain Anterior Caudate	brain
33	chr18:25743400-25747800	Weak transcription	A549	lung
34	chr18:25743400-25753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:25743600-25744600	Weak transcription	HepG2	liver
36	chr18:25743600-25744600	Weak transcription	HSMM	muscle
37	chr18:25743600-25747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:25743600-25747800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:25743600-25747800	Weak transcription	Right Atrium	heart
40	chr18:25743600-25750400	Weak transcription	Left Ventricle	heart
41	chr18:25743800-25744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:25743800-25747200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:25743800-25747400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:25743800-25747800	Weak transcription	Osteobl	bone

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