Variant report

Variant	rs12699010
Chromosome Location	chr7:70769440-70769441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70762205..70764072-chr7:70767417..70770414,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10252095	0.82[CEU][hapmap]
rs10263419	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12532253	0.96[EUR][1000 genomes]
rs12699007	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12699008	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12699009	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699011	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699012	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17143419	0.89[CEU][hapmap]
rs1882573	1.00[EUR][1000 genomes]
rs34702051	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4305790	1.00[EUR][1000 genomes]
rs4323379	1.00[EUR][1000 genomes]
rs6949288	1.00[EUR][1000 genomes]
rs7799967	0.88[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70752200-70773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70765000-70775400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70766200-70772400	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70767800-70769600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:70768200-70769600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:70768200-70769600	Enhancers	HSMMtube	muscle
8	chr7:70768200-70769800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70768400-70769600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:70768400-70769600	Enhancers	Fetal Stomach	stomach
11	chr7:70768400-70769600	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:70768600-70769600	Enhancers	Fetal Kidney	kidney
13	chr7:70768600-70769600	Enhancers	Fetal Lung	lung
14	chr7:70769000-70770400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:70769000-70772800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:70769200-70769600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:70769200-70769600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70769200-70770800	Enhancers	Ovary	ovary
19	chr7:70769200-70772200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:70769200-70772400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:70769200-70772400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:70769200-70772600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:70769200-70772800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:70769200-70772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:70769200-70773600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70769400-70770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:70769400-70772200	Weak transcription	HSMM	muscle
28	chr7:70769400-70772400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:70769400-70772400	Weak transcription	NH-A	brain
30	chr7:70769400-70772600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:70769400-70772600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:70769400-70772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:70769400-70772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:70769400-70772800	Weak transcription	Placenta Amnion	Placenta Amnion

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