Variant report

Variant	rs1859765
Chromosome Location	chr7:108049376-108049377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108037650..108039399-chr7:108047562..108049627,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10276271	0.83[GIH][hapmap]
rs11766336	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673082	0.81[CEU][hapmap]
rs12673676	0.89[ASW][hapmap];0.84[CEU][hapmap]
rs13221478	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13237416	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859768	0.83[GIH][hapmap]
rs2158847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190405	0.94[CEU][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395965	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs969708	0.84[CEU][hapmap]
rs995310	0.84[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1859765	DNAJB9	cis	parietal	SCAN
rs1859765	LRRN3	cis	cerebellum	SCAN
rs1859765	NRCAM	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108036600-108054200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:108044000-108050200	Enhancers	Fetal Brain Male	brain
3	chr7:108044600-108054600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:108045200-108050000	Enhancers	Fetal Lung	lung
5	chr7:108046800-108049600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:108046800-108054200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:108047000-108049400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:108047000-108054200	Weak transcription	NHLF	lung
9	chr7:108047200-108049400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:108047400-108054200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:108047800-108050000	Enhancers	Fetal Muscle Leg	muscle
12	chr7:108048000-108050000	Enhancers	Brain Substantia Nigra	brain
13	chr7:108048000-108050200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:108048000-108054200	Weak transcription	HUVEC	blood vessel
15	chr7:108048200-108049400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:108048200-108049400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:108048600-108049600	Enhancers	Brain Angular Gyrus	brain
18	chr7:108048600-108050200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:108048600-108050200	Enhancers	Pancreas	Pancrea
20	chr7:108048800-108049400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:108049000-108049400	Genic enhancers	A549	lung
22	chr7:108049000-108049800	Enhancers	Brain Anterior Caudate	brain
23	chr7:108049200-108049600	Flanking Active TSS	Fetal Brain Female	brain
24	chr7:108049200-108049600	Enhancers	Spleen	Spleen
25	chr7:108049200-108054200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:108049200-108054200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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