Variant report

Variant	rs1990046
Chromosome Location	chr7:83747642-83747643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10226927	1.00[CHB][hapmap]
rs10243933	1.00[CEU][hapmap]
rs10488269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158484	1.00[CEU][hapmap]
rs17158496	1.00[CEU][hapmap]
rs17158607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158675	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17158680	1.00[JPT][hapmap]
rs17158685	1.00[JPT][hapmap]
rs28433968	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28708904	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58741896	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6943044	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6944814	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6946101	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6966352	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs73177447	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73177452	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73177461	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73177476	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73177479	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73378880	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73378884	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73380806	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7786079	1.00[JPT][hapmap]
rs7787696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804558	1.00[JPT][hapmap]
rs7808547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83743000-83750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
6	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:83744000-83752000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:83744400-83753400	Weak transcription	NHLF	lung
12	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
13	chr7:83746200-83753200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:83746800-83748200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:83746800-83749800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:83747000-83748000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:83747000-83752000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:83747200-83752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:83747200-83752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:83747200-83753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:83747400-83747800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:83747400-83747800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:83747400-83752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:83747600-83748000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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