Variant report

Variant	rs2178235
Chromosome Location	chr7:84578660-84578661
allele	A/C
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:29)

rs_ID	r²[population]
rs10227671	0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228375	1.00[AMR][1000 genomes]
rs10228811	0.80[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252131	1.00[CEU][hapmap]
rs10254683	0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255386	0.85[LWK][hapmap];0.89[MKK][hapmap]
rs10260704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266000	0.84[AFR][1000 genomes]
rs10270864	0.88[AFR][1000 genomes]
rs10274097	0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10480908	0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10486848	1.00[CHD][hapmap]
rs17159428	1.00[AMR][1000 genomes]
rs17159429	1.00[AMR][1000 genomes]
rs17159437	1.00[AMR][1000 genomes]
rs17159451	1.00[AMR][1000 genomes]
rs17159500	0.84[MKK][hapmap];0.84[AFR][1000 genomes]
rs28470299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28490165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28517442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59006441	0.84[AFR][1000 genomes]
rs73711627	1.00[AMR][1000 genomes]
rs73711631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713920	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7805244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1032638	chr7:84550206-84603392	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84577000-84579200	Weak transcription	HSMMtube	muscle
2	chr7:84577800-84578800	Enhancers	NHDF-Ad	bronchial
3	chr7:84578000-84578800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:84578000-84578800	Enhancers	HUVEC	blood vessel
5	chr7:84578200-84582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:84578400-84578800	Enhancers	NHEK	skin
7	chr7:84578600-84579000	Weak transcription	HSMM	muscle
8	chr7:84578600-84579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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