Variant report

Variant	rs754246
Chromosome Location	chr5:97835681-97835682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10463709	0.80[EUR][1000 genomes]
rs10515274	0.83[EUR][1000 genomes]
rs11241495	0.82[EUR][1000 genomes]
rs12189186	0.83[EUR][1000 genomes]
rs12657824	0.81[EUR][1000 genomes]
rs17657926	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17658482	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17714217	0.82[EUR][1000 genomes]
rs1862374	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193998	0.81[EUR][1000 genomes]
rs2032855	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2080993	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919570	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4358552	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562067	0.83[EUR][1000 genomes]
rs460690	0.80[EUR][1000 genomes]
rs4703085	0.83[EUR][1000 genomes]
rs56048042	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56201194	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58281947	0.82[EUR][1000 genomes]
rs58386439	0.82[EUR][1000 genomes]
rs59100135	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59125454	0.83[EUR][1000 genomes]
rs61419074	0.83[EUR][1000 genomes]
rs6595339	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6595369	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861004	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6866878	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72503456	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73772949	0.83[EUR][1000 genomes]
rs73772950	0.82[EUR][1000 genomes]
rs73772956	0.83[EUR][1000 genomes]
rs73772957	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73772959	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73772962	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882408	chr5:97616089-97836794	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1018555	chr5:97719032-97873906	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv882412	chr5:97796120-97953719	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97828400-97837600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:97832200-97838000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:97833200-97836000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:97833600-97835800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:97833600-97837600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:97833800-97836600	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:97833800-97839000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:97834200-97835800	Enhancers	Dnd41	blood
9	chr5:97834200-97839000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:97834400-97837600	Weak transcription	HSMM	muscle
11	chr5:97834400-97837800	Weak transcription	NHDF-Ad	bronchial
12	chr5:97834400-97839400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:97834800-97835800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:97835200-97835800	Enhancers	Fetal Intestine Large	intestine
15	chr5:97835400-97835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:97835400-97836000	Enhancers	Fetal Intestine Small	intestine
17	chr5:97835600-97836400	Enhancers	Colon Smooth Muscle	Colon

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