Variant report

Variant	rs1934636
Chromosome Location	chr1:210929893-210929894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210545831..210547443-chr1:210928453..210930887,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1343143	0.83[AMR][1000 genomes]
rs1770213	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1770216	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1770219	0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1777243	0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1777245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1777246	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1777258	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1777260	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1777261	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777264	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1890839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890840	0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1890844	0.81[JPT][hapmap]
rs1890845	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1890847	0.81[CHB][hapmap]
rs1934628	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1934629	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1934630	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2884390	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4405188	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951564	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951615	0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6658580	0.83[AMR][1000 genomes]
rs6665563	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666042	0.83[AMR][1000 genomes]
rs7514108	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7515909	0.91[GIH][hapmap];0.94[MEX][hapmap]
rs7546472	0.86[GIH][hapmap];0.88[MEX][hapmap]
rs9429846	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9429847	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1934636	DTL	cis	parietal	SCAN
rs1934636	CTSE	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210917400-210930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210921600-210931400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:210927800-210930000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:210928000-210930200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:210928200-210930000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:210928200-210930000	Enhancers	Brain Hippocampus Middle	brain
8	chr1:210928200-210930600	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:210928200-210930600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:210928200-210930600	Enhancers	Fetal Brain Male	brain
11	chr1:210928600-210930800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:210928600-210931600	Weak transcription	Esophagus	oesophagus
13	chr1:210929000-210930600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210929000-210930800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:210929000-210931000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:210929000-210931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:210929000-210931200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:210929200-210930000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:210929200-210930800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:210929200-210930800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:210929200-210933000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:210929400-210931600	Weak transcription	HSMMtube	muscle
23	chr1:210929600-210931000	Weak transcription	Brain Germinal Matrix	brain

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