Variant report

Variant	rs12706640
Chromosome Location	chr7:79756967-79756968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79749208..79750718-chr7:79754504..79757482,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10236183	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244538	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266446	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277713	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530885	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153463	0.84[EUR][1000 genomes]
rs2015430	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2078181	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290068	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731234	0.84[EUR][1000 genomes]
rs717114	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717115	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458626	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79754400-79758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:79754400-79762000	Weak transcription	Fetal Thymus	thymus
3	chr7:79754600-79757200	Weak transcription	Dnd41	blood
4	chr7:79754600-79758000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:79754600-79758200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:79755200-79758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:79755400-79758400	Enhancers	Brain Anterior Caudate	brain
8	chr7:79755400-79758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:79755600-79757400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr7:79755600-79758000	Enhancers	Brain Substantia Nigra	brain
11	chr7:79755600-79758200	Enhancers	Brain Hippocampus Middle	brain
12	chr7:79755600-79758600	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:79755800-79757400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:79755800-79758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:79755800-79758200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:79756000-79757600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:79756000-79758000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:79756000-79758400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:79756200-79758000	Enhancers	Brain Angular Gyrus	brain
21	chr7:79756200-79758200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr7:79756200-79758600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr7:79756400-79757400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:79756400-79757600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:79756400-79757800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:79756400-79757800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:79756600-79757000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:79756600-79757400	Weak transcription	Brain Germinal Matrix	brain
29	chr7:79756600-79758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:79756600-79758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:79756800-79757400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:79756800-79757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:79756800-79757600	Enhancers	Fetal Lung	lung
34	chr7:79756800-79757600	Enhancers	Fetal Muscle Leg	muscle
35	chr7:79756800-79757800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:79756800-79758800	Enhancers	Placenta	Placenta

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