Variant report

Variant	rs6974250
Chromosome Location	chr7:70735383-70735384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10238468	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10950253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950255	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11764495	0.98[EUR][1000 genomes]
rs11765235	0.98[EUR][1000 genomes]
rs11769358	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17522536	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1882569	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922509	0.80[EUR][1000 genomes]
rs1922510	0.99[EUR][1000 genomes]
rs1922511	0.80[EUR][1000 genomes]
rs28540223	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867405	0.93[EUR][1000 genomes]
rs2867406	0.99[EUR][1000 genomes]
rs4717588	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55709743	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62457833	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	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	chr7:70729400-70736200	Weak transcription	Ovary	ovary
2	chr7:70732400-70735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:70732400-70745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
5	chr7:70732600-70736200	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:70732800-70737800	Weak transcription	Fetal Heart	heart
7	chr7:70733200-70747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:70733400-70735600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:70733400-70737600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:70734200-70735400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:70734200-70739200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:70734400-70736400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:70734400-70736400	Enhancers	Fetal Lung	lung
14	chr7:70734600-70740600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:70734800-70736200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:70734800-70736200	Weak transcription	Fetal Stomach	stomach
17	chr7:70734800-70739000	Weak transcription	Left Ventricle	heart
18	chr7:70735000-70735800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:70735000-70736000	Weak transcription	Brain Anterior Caudate	brain
20	chr7:70735000-70736600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:70735000-70739000	Weak transcription	Right Ventricle	heart
22	chr7:70735000-70739200	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:70735200-70735800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:70735200-70747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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