Variant report

Variant	rs10782651
Chromosome Location	chr1:77934335-77934336
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	chr1:77931036..77935396-chr1:77935652..77939462,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10873942	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873947	0.86[CHB][hapmap]
rs11162348	0.84[ASN][1000 genomes]
rs11162350	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11162355	0.86[CHB][hapmap]
rs12066994	0.89[ASN][1000 genomes]
rs12093263	0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs12732787	0.83[ASN][1000 genomes]
rs1498405	0.85[ASN][1000 genomes]
rs1532508	0.86[ASN][1000 genomes]
rs1874817	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2221084	0.84[ASN][1000 genomes]
rs2247742	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2251456	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2647503	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2647504	0.94[ASN][1000 genomes]
rs2803152	0.86[CHB][hapmap]
rs2803155	0.85[CHB][hapmap]
rs2803162	0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2803165	0.86[ASN][1000 genomes]
rs3113637	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs3121778	0.81[ASN][1000 genomes]
rs6603950	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687876	0.85[ASN][1000 genomes]
rs7514041	0.86[CHB][hapmap]
rs7514937	0.85[CHB][hapmap]
rs7522356	0.96[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap]
rs7534707	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7542588	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10782651	NEXN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:77929400-77935400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:77929400-77935800	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:77929800-77935000	Enhancers	Brain Anterior Caudate	brain
8	chr1:77930200-77938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77930400-77935600	Enhancers	Brain Angular Gyrus	brain
10	chr1:77931400-77935600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:77931800-77934600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:77932200-77934800	Enhancers	Fetal Intestine Large	intestine
13	chr1:77932400-77935000	Enhancers	Fetal Intestine Small	intestine
14	chr1:77932800-77935000	Enhancers	NHDF-Ad	bronchial
15	chr1:77932800-77935600	Enhancers	Brain Substantia Nigra	brain
16	chr1:77933000-77935600	Enhancers	Fetal Stomach	stomach
17	chr1:77933400-77935400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:77933400-77935600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:77933400-77935600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:77933600-77934800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:77933600-77934800	Enhancers	Osteobl	bone
22	chr1:77933600-77935000	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:77933600-77935200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:77933600-77935800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:77933600-77935800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:77934000-77934400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:77934000-77934600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:77934000-77934800	Enhancers	HSMMtube	muscle
30	chr1:77934000-77935000	Enhancers	HSMM	muscle
31	chr1:77934000-77935200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:77934000-77935400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:77934200-77935000	Weak transcription	NHLF	lung
34	chr1:77934200-77939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:77934200-77948800	Weak transcription	Right Atrium	heart

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