Variant report

Variant	rs28664864
Chromosome Location	chr7:70774451-70774452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10230586	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10238960	0.80[ASN][1000 genomes]
rs10246940	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10265527	0.82[ASN][1000 genomes]
rs10267524	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10268327	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10271589	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10807731	0.84[ASN][1000 genomes]
rs11761703	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11765927	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11768963	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12154884	0.83[ASN][1000 genomes]
rs12155139	0.81[ASN][1000 genomes]
rs12534549	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536668	0.84[ASN][1000 genomes]
rs1317290	0.88[ASN][1000 genomes]
rs1317429	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1317892	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17143199	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1922525	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1950148	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2091792	0.85[ASN][1000 genomes]
rs2107796	0.83[EUR][1000 genomes]
rs2107797	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2107800	0.82[ASN][1000 genomes]
rs2158609	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2527294	0.81[ASN][1000 genomes]
rs2527308	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2527310	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2527314	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707432	0.82[ASN][1000 genomes]
rs28392825	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28479972	0.87[ASN][1000 genomes]
rs28588236	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28678480	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3923569	0.80[ASN][1000 genomes]
rs3923570	0.85[ASN][1000 genomes]
rs3973938	0.85[ASN][1000 genomes]
rs4445102	0.82[ASN][1000 genomes]
rs4520056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4584034	0.82[ASN][1000 genomes]
rs4719104	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719106	0.86[ASN][1000 genomes]
rs4719107	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4719109	0.80[ASN][1000 genomes]
rs4719113	0.82[ASN][1000 genomes]
rs4719114	0.82[ASN][1000 genomes]
rs4719117	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56166024	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57442026	0.85[ASN][1000 genomes]
rs59972409	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460649	0.80[ASN][1000 genomes]
rs6460651	0.84[ASN][1000 genomes]
rs6460652	0.83[ASN][1000 genomes]
rs6460653	0.83[ASN][1000 genomes]
rs6954049	0.80[ASN][1000 genomes]
rs6957946	0.87[ASN][1000 genomes]
rs6964131	0.80[ASN][1000 genomes]
rs6967666	0.84[ASN][1000 genomes]
rs6976592	0.85[ASN][1000 genomes]
rs73181630	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7787933	0.84[ASN][1000 genomes]
rs7788793	0.82[ASN][1000 genomes]
rs7791195	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7796585	0.81[ASN][1000 genomes]
rs9638614	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9638616	0.80[ASN][1000 genomes]
rs9638618	0.80[ASN][1000 genomes]
rs9638620	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9654908	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70765000-70775400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:70773000-70775600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70773000-70775800	Weak transcription	Aorta	Aorta
5	chr7:70773200-70774600	Enhancers	Left Ventricle	heart
6	chr7:70773400-70780800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:70773400-70789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70773600-70775200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:70773600-70775400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70773600-70776200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:70773600-70778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:70773600-70778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:70773600-70778400	Weak transcription	Fetal Lung	lung
14	chr7:70773800-70774800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:70773800-70775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:70773800-70776600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:70773800-70778200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:70773800-70778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:70774000-70776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:70774000-70779800	Weak transcription	Fetal Stomach	stomach
21	chr7:70774200-70775600	Weak transcription	Fetal Heart	heart
22	chr7:70774200-70776800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:70774400-70775400	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:70774400-70775400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:70774400-70775600	Weak transcription	Right Ventricle	heart
26	chr7:70774400-70775800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:70774400-70777000	Weak transcription	Ovary	ovary
28	chr7:70774400-70778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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