Variant report

Variant	rs447
Chromosome Location	chr7:83772415-83772416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83771843..83774813-chr7:83782378..83785250,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10259508	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10261415	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10263314	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10279093	0.82[EUR][1000 genomes]
rs10808306	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707615	0.82[EUR][1000 genomes]
rs12707616	0.82[EUR][1000 genomes]
rs12707617	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs12707619	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1468344	0.82[EUR][1000 genomes]
rs1468345	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1468346	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2040872	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2067693	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2158566	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2372033	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2527038	0.85[CHD][hapmap]
rs3801655	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4141151	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs464	0.93[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap]
rs4732543	0.82[EUR][1000 genomes]
rs4732545	0.82[EUR][1000 genomes]
rs6467987	0.83[EUR][1000 genomes]
rs6467988	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6651129	0.84[EUR][1000 genomes]
rs6964546	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974494	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs6977099	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6977306	0.80[EUR][1000 genomes]
rs6977516	0.90[JPT][hapmap]
rs6978184	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7781923	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7783472	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7785708	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7793598	1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7804563	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7808864	0.84[CEU][hapmap];0.90[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs929334	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs929335	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	23453885	GWAS catalog

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:83768800-83774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:83769000-83774000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83769600-83774000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:83769800-83773000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:83769800-83775200	Weak transcription	Fetal Lung	lung
11	chr7:83769800-83775200	Weak transcription	NHLF	lung
12	chr7:83769800-83775400	Weak transcription	Fetal Stomach	stomach
13	chr7:83770000-83774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:83770600-83773200	Weak transcription	A549	lung
15	chr7:83770600-83774000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:83770800-83772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
18	chr7:83771000-83774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:83771400-83774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:83771800-83773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:83771800-83773800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:83771800-83773800	Weak transcription	HUVEC	blood vessel
23	chr7:83771800-83777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:83772000-83773800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:83772000-83776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:83772000-83777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:83772200-83773200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:83772200-83773600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:83772200-83773800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:83772400-83772600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:83772400-83772600	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:83772400-83772800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:83772400-83773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:83772400-83774200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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