Variant report

Variant	rs12699007
Chromosome Location	chr7:70751225-70751226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10263419	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12532253	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532676	0.82[AMR][1000 genomes]
rs12699008	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699009	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12699010	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12699011	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699012	0.89[CEU][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12699013	0.82[AMR][1000 genomes]
rs12699032	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17143419	0.88[CEU][hapmap]
rs1882573	0.96[EUR][1000 genomes]
rs34702051	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35182494	0.82[AMR][1000 genomes]
rs4305790	0.96[EUR][1000 genomes]
rs4323379	0.96[EUR][1000 genomes]
rs56340632	0.82[AMR][1000 genomes]
rs62462185	0.82[AMR][1000 genomes]
rs6949288	0.96[EUR][1000 genomes]
rs71549400	0.82[AMR][1000 genomes]
rs7799967	0.80[CEU][hapmap];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	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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
2	chr7:70740000-70751600	Weak transcription	Left Ventricle	heart
3	chr7:70745800-70755000	Weak transcription	Fetal Heart	heart
4	chr7:70748000-70751400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:70748000-70751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:70748000-70751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:70749800-70752000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70750000-70751600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:70750000-70751800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:70750000-70752200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:70750200-70751800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:70750200-70752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:70750200-70752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:70750200-70752200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:70750400-70751600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:70750400-70751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:70750400-70751600	Enhancers	HSMM	muscle
18	chr7:70750400-70752000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:70750600-70752200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:70750600-70752400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:70750600-70752600	Enhancers	Fetal Muscle Leg	muscle
22	chr7:70750600-70752800	Enhancers	Fetal Lung	lung
23	chr7:70750800-70751800	Weak transcription	Fetal Stomach	stomach
24	chr7:70750800-70752600	Enhancers	Colon Smooth Muscle	Colon
25	chr7:70751000-70751400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70751000-70751600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:70751000-70751800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr7:70751000-70751800	Enhancers	Rectal Smooth Muscle	rectum
29	chr7:70751000-70751800	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:70751000-70752200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:70751200-70752000	Enhancers	Brain Hippocampus Middle	brain
32	chr7:70751200-70752600	Enhancers	Ovary	ovary
33	chr7:70751200-70755400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:70751200-70768200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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