Variant report

Variant	rs996033
Chromosome Location	chr7:83826795-83826796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11979170	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12539919	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1986177	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782557	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800664	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800995	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7805512	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929275	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642174	0.88[ASN][1000 genomes]
rs9642175	1.00[ASW][hapmap];0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs996033	KIAA1324L	cis	cerebellum	SCAN
rs996033	GNAI1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825200-83830200	Weak transcription	Hela-S3	cervix
2	chr7:83825400-83836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83825800-83828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83825800-83829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83825800-83829200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:83825800-83834200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:83825800-83836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:83826000-83826800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:83826000-83828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:83826000-83829000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:83826000-83829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:83826000-83829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:83826000-83830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:83826000-83830200	Weak transcription	NH-A	brain
16	chr7:83826000-83833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:83826000-83834200	Weak transcription	Fetal Brain Male	brain
18	chr7:83826200-83827000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:83826200-83828000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:83826200-83828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:83826200-83828400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:83826200-83828800	Weak transcription	A549	lung
23	chr7:83826200-83829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:83826200-83829800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:83826200-83830400	Weak transcription	NHDF-Ad	bronchial
26	chr7:83826200-83830400	Weak transcription	NHLF	lung
27	chr7:83826400-83826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:83826400-83833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:83826600-83828000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:83826600-83828400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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